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For: Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med 2016;18:898-905. [DOI: 10.1038/gim.2015.186] [Cited by in Crossref: 184] [Cited by in F6Publishing: 161] [Article Influence: 30.7] [Reference Citation Analysis]
Number Citing Articles
1 Tumienė B, Maver A, Writzl K, Hodžić A, Čuturilo G, Kuzmanić-Šamija R, Čulić V, Peterlin B. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. Clin Genet 2018;93:1057-62. [PMID: 29286531 DOI: 10.1111/cge.13203] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 5.3] [Reference Citation Analysis]
2 Lee S, Karp N, Zapata-Aldana E, Sadikovic B, Yang P, Balci TB, Prasad AN. Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience. Can J Neurol Sci 2021;48:233-44. [PMID: 32741404 DOI: 10.1017/cjn.2020.167] [Reference Citation Analysis]
3 Mei D, Parrini E, Marini C, Guerrini R. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther 2017;21:357-73. [DOI: 10.1007/s40291-017-0257-0] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 6.2] [Reference Citation Analysis]
4 Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018;59:132-40. [DOI: 10.1016/j.seizure.2018.05.005] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 8.5] [Reference Citation Analysis]
5 Zech M, Wagner M, Schormair B, Oexle K, Winkelmann J. [Exome diagnostics in neurology]. Nervenarzt 2019;90:131-7. [PMID: 30645660 DOI: 10.1007/s00115-018-0667-1] [Reference Citation Analysis]
6 Lamar KJ, Carvill GL. Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy. Front Mol Neurosci 2018;11:208. [PMID: 29962935 DOI: 10.3389/fnmol.2018.00208] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 5.0] [Reference Citation Analysis]
7 Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Ann Clin Transl Neurol 2020;7:1013-28. [PMID: 32519519 DOI: 10.1002/acn3.51074] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
8 Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL; Deciphering Developmental Disorders Study. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet 2017;101:664-85. [PMID: 29100083 DOI: 10.1016/j.ajhg.2017.09.008] [Cited by in Crossref: 197] [Cited by in F6Publishing: 164] [Article Influence: 39.4] [Reference Citation Analysis]
9 Qiao Y, Bagheri H, Tang F, Badduke C, Martell S, Lewis SME, Robinson W, Connolly MB, Arbour L, Rajcan-Separovic E. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication. Eur J Med Genet 2019;62:103-8. [PMID: 29908350 DOI: 10.1016/j.ejmg.2018.06.010] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
10 Zaganas I, Vorgia P, Spilioti M, Mathioudakis L, Raissaki M, Ilia S, Giorgi M, Skoula I, Chinitrakis G, Michaelidou K, Paraskevoulakos E, Grafakou O, Kariniotaki C, Psyllou T, Zafeiris S, Tzardi M, Briassoulis G, Dinopoulos A, Mitsias P, Evangeliou A. Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes. Epilepsy Behav Rep 2021;16:100477. [PMID: 34568804 DOI: 10.1016/j.ebr.2021.100477] [Reference Citation Analysis]
11 Wang Q, Shashikant CS, Jensen M, Altman NS, Girirajan S. Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. Sci Rep 2017;7:885. [PMID: 28408746 DOI: 10.1038/s41598-017-01005-x] [Cited by in Crossref: 21] [Cited by in F6Publishing: 23] [Article Influence: 4.2] [Reference Citation Analysis]
12 Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing. Int J Mol Sci 2021;22:13439. [PMID: 34948243 DOI: 10.3390/ijms222413439] [Reference Citation Analysis]
13 Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open 2019;4:397-408. [PMID: 31440721 DOI: 10.1002/epi4.12348] [Cited by in Crossref: 26] [Cited by in F6Publishing: 21] [Article Influence: 8.7] [Reference Citation Analysis]
14 Wang W, Corominas R, Lin GN. De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. Front Genet 2019;10:258. [PMID: 31001316 DOI: 10.3389/fgene.2019.00258] [Cited by in Crossref: 25] [Cited by in F6Publishing: 20] [Article Influence: 8.3] [Reference Citation Analysis]
15 Helbig I, Barcia G, Pendziwiat M, Ganesan S, Mueller SH, Helbig KL, Vaidiswaran P, Xian J, Galer PD, Afawi Z, Specchio N, Kluger G, Kuhlenbäumer G, Appenzeller S, Wittig M, Kramer U, van Baalen A, Nabbout R; FIRES Genetics Study Group. Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome. Ann Clin Transl Neurol 2020;7:1429-35. [PMID: 32666661 DOI: 10.1002/acn3.51062] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
16 Thodeson DM, Park JY. Genomic testing in pediatric epilepsy. Cold Spring Harb Mol Case Stud 2019;5:a004135. [PMID: 31371349 DOI: 10.1101/mcs.a004135] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
17 [DOI: 10.1101/123323] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
18 Symonds JD, McTague A. Epilepsy and developmental disorders: Next generation sequencing in the clinic. Eur J Paediatr Neurol 2020;24:15-23. [PMID: 31882278 DOI: 10.1016/j.ejpn.2019.12.008] [Cited by in Crossref: 26] [Cited by in F6Publishing: 19] [Article Influence: 8.7] [Reference Citation Analysis]
19 Thai MHN, Gardner A, Redpath L, Mattiske T, Dearsley O, Shaw M, Vulto-van Silfhout AT, Pfundt R, Dixon J, McGaughran J, Pérez-Jurado LA, Gécz J, Shoubridge C. Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Hum Mutat 2020;41:1407-24. [PMID: 32383243 DOI: 10.1002/humu.24034] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
20 Lindy AS, Stosser MB, Butler E, Downtain‐pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, Mcknight DA. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia 2018;59:1062-71. [DOI: 10.1111/epi.14074] [Cited by in Crossref: 97] [Cited by in F6Publishing: 82] [Article Influence: 24.3] [Reference Citation Analysis]
21 Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, Costello D, Doherty C, Dunleavey B, El-Naggar H, Gangadharan N, Heavin S, Kearney H, Lench NJ, Lynch J, McCormack M, Regan MO, Podesta K, Power K, Rogers AS, Steward CA, Sweeney B, Webb D, Fitzsimons M, Greally M, Delanty N, Cavalleri GL. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. Eur J Hum Genet 2020;28:1066-77. [PMID: 32238909 DOI: 10.1038/s41431-020-0610-3] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 5.0] [Reference Citation Analysis]
22 Lance EI, Kronenbuerger M, Cohen JS, Furmanski O, Singer HS, Fatemi A. Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant. SAGE Open Med Case Rep 2018;6:2050313X18807622. [PMID: 30377530 DOI: 10.1177/2050313X18807622] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
23 Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR. The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals. Genet Med 2021;23:1492-7. [PMID: 33911214 DOI: 10.1038/s41436-021-01153-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
24 Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet R, Erçal D, Grinberg D, Balcells S. The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clin Case Rep 2018;6:1452-6. [PMID: 30147881 DOI: 10.1002/ccr3.1603] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
25 Gururaj S, Palmer EE, Sheehan GD, Kandula T, Macintosh R, Ying K, Morris P, Tao J, Dias KR, Zhu Y, Dinger ME, Cowley MJ, Kirk EP, Roscioli T, Sachdev R, Duffey ME, Bye A, Bhattacharjee A. A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. Cell Rep 2017;21:926-33. [PMID: 29069600 DOI: 10.1016/j.celrep.2017.09.088] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 4.3] [Reference Citation Analysis]
26 Shickh S, Mighton C, Uleryk E, Pechlivanoglou P, Bombard Y. The clinical utility of exome and genome sequencing across clinical indications: a systematic review. Hum Genet 2021. [PMID: 34368901 DOI: 10.1007/s00439-021-02331-x] [Reference Citation Analysis]
27 Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, Innes AM, Posey JE, Lupski JR. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol 2019;6:1395-406. [PMID: 31402629 DOI: 10.1002/acn3.50824] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
28 Myers KA, Johnstone DL, Dyment DA. Epilepsy genetics: Current knowledge, applications, and future directions. Clin Genet 2019;95:95-111. [PMID: 29992546 DOI: 10.1111/cge.13414] [Cited by in Crossref: 47] [Cited by in F6Publishing: 41] [Article Influence: 11.8] [Reference Citation Analysis]
29 Boßelmann CM, Antonio-Arce VS, Schulze-Bonhage A, Fauser S, Zacher P, Mayer T, Aparicio J, Albers K, Cloppenborg T, Kunz W, Surges R, Syrbe S, Weber Y, Wolking S. Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers. Seizure 2021;95:4-10. [PMID: 34953286 DOI: 10.1016/j.seizure.2021.12.004] [Reference Citation Analysis]
30 Jin ZB, Li Z, Liu Z, Jiang Y, Cai XB, Wu J. Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing. Biol Rev Camb Philos Soc 2018;93:1014-31. [PMID: 29154454 DOI: 10.1111/brv.12383] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 4.0] [Reference Citation Analysis]
31 Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium., GRIN Consortium. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet 2019;104:1060-72. [PMID: 31104773 DOI: 10.1016/j.ajhg.2019.04.001] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 10.7] [Reference Citation Analysis]
32 Kim SY, Jang SS, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC. Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. Clin Genet 2021;99:418-24. [PMID: 33349918 DOI: 10.1111/cge.13903] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
33 Almannai M, Al Mahmoud RA, Mekki M, El-Hattab AW. Metabolic Seizures. Front Neurol 2021;12:640371. [PMID: 34295297 DOI: 10.3389/fneur.2021.640371] [Reference Citation Analysis]
34 Ortega-Moreno L, Giráldez BG, Soto-Insuga V, Losada-Del Pozo R, Rodrigo-Moreno M, Alarcón-Morcillo C, Sánchez-Martín G, Díaz-Gómez E, Guerrero-López R, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI). Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. PLoS One 2017;12:e0188978. [PMID: 29190809 DOI: 10.1371/journal.pone.0188978] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 7.6] [Reference Citation Analysis]
35 Feng H, Khalil S, Neubig RR, Sidiropoulos C. A mechanistic review on GNAO1-associated movement disorder. Neurobiol Dis 2018;116:131-41. [PMID: 29758257 DOI: 10.1016/j.nbd.2018.05.005] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
36 Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL. Clinical application of next-generation sequencing to the practice of neurology. Lancet Neurol 2019;18:492-503. [PMID: 30981321 DOI: 10.1016/S1474-4422(19)30033-X] [Cited by in Crossref: 35] [Cited by in F6Publishing: 11] [Article Influence: 17.5] [Reference Citation Analysis]
37 Li L, Jin J, Yang XJ. Histone Deacetylase 3 Governs Perinatal Cerebral Development via Neural Stem and Progenitor Cells. iScience 2019;20:148-67. [PMID: 31569049 DOI: 10.1016/j.isci.2019.09.015] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 2.3] [Reference Citation Analysis]
38 Lemke JR. Diagnostik genetisch bedingter Epilepsien. Medizinische Genetik 2019;31:303-12. [DOI: 10.1007/s11825-019-00255-6] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
39 Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, Hori I, Ohashi K, Negishi Y, Hattori A, Takahashi Y, Kojima S, Saitoh S. A novel CUL4B splice site variant in a young male exhibiting less pronounced features. Hum Genome Var 2019;6:43. [PMID: 31645981 DOI: 10.1038/s41439-019-0074-6] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
40 Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Clinical and genetic characteristics of patients with Doose syndrome. Epilepsia Open 2020;5:442-50. [PMID: 32913952 DOI: 10.1002/epi4.12417] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
41 Demos M, Guella I, DeGuzman C, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova R, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. Front Neurol 2019;10:434. [PMID: 31164858 DOI: 10.3389/fneur.2019.00434] [Cited by in Crossref: 31] [Cited by in F6Publishing: 22] [Article Influence: 10.3] [Reference Citation Analysis]
42 Ware TL, Huskins SR, Grinton BE, Liu YC, Bennett MF, Harvey M, McMahon J, Andreopoulos-Malikotsinas D, Bahlo M, Howell KB, Hildebrand MS, Damiano JA, Rosenfeld A, Mackay MT, Mandelstam S, Leventer RJ, Harvey AS, Freeman JL, Scheffer IE, Jones DL, Berkovic SF. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania. Epilepsia Open 2019;4:504-10. [PMID: 31440733 DOI: 10.1002/epi4.12350] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
43 Dougherty JD, Yang C, Lake AM. Systems biology in the central nervous system: a brief perspective on essential recent advancements. Curr Opin Syst Biol 2017;3:67-76. [PMID: 29057378 DOI: 10.1016/j.coisb.2017.04.011] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
44 Staněk D, Laššuthová P, Štěrbová K, Vlčková M, Neupauerová J, Krůtová M, Seeman P. Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. Orphanet J Rare Dis 2018;13:71. [PMID: 29720203 DOI: 10.1186/s13023-018-0812-8] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.8] [Reference Citation Analysis]
45 Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. Eur J Hum Genet 2017;25:763-7. [PMID: 28295038 DOI: 10.1038/ejhg.2017.29] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 2.6] [Reference Citation Analysis]
46 Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, Zhang Y, Dai L, Ding C, Sun Z, Hu J, Zhu H, Jiang Y, Macdonald RL. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. Brain 2019;142:1938-54. [PMID: 31056671 DOI: 10.1093/brain/awz123] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 5.5] [Reference Citation Analysis]
47 Guehlouz K, Foulonneau T, Amati-Bonneau P, Charif M, Colin E, Bris C, Desquiret-Dumas V, Milea D, Gohier P, Procaccio V, Bonneau D, den Dunnen JT, Lenaers G, Reynier P, Ferré M. ACO2 clinicobiological dataset with extensive phenotype ontology annotation. Sci Data 2021;8:205. [PMID: 34354088 DOI: 10.1038/s41597-021-00984-x] [Reference Citation Analysis]
48 Ope O, Bhoj EJ, Nelson B, Li D, Hakonarson H, Sobering AK. A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly. Am J Med Genet A 2020;182:1877-80. [PMID: 32618095 DOI: 10.1002/ajmg.a.61744] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
49 AlSaif S, Umair M, Alfadhel M. Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review. J Cent Nerv Syst Dis 2019;11:1179573519849938. [PMID: 31205438 DOI: 10.1177/1179573519849938] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
50 Liu L, Liu F, Wang Q, Xie H, Li Z, Lu Q, Wang Y, Zhang M, Zhang Y, Picker J, Cui X, Zou L, Chen X. Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort. Mol Genet Genomic Med 2021;9:e1689. [PMID: 33951346 DOI: 10.1002/mgg3.1689] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
51 Stödberg T, Tomson T, Barbaro M, Stranneheim H, Anderlid BM, Carlsson S, Åmark P, Wedell A. Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study. Epilepsia 2020;61:2486-99. [PMID: 32964447 DOI: 10.1111/epi.16701] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
52 Mak CC, Leung GK, Mok GT, Yeung KS, Yang W, Fung CW, Chan SH, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BH. Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey. NPJ Genom Med 2018;3:19. [PMID: 30109123 DOI: 10.1038/s41525-018-0056-5] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
53 Myers SJ, Yuan H, Kang JQ, Tan FCK, Traynelis SF, Low CM. Distinct roles of GRIN2A and GRIN2B variants in neurological conditions. F1000Res 2019;8:F1000 Faculty Rev-1940. [PMID: 31807283 DOI: 10.12688/f1000research.18949.1] [Cited by in Crossref: 28] [Cited by in F6Publishing: 23] [Article Influence: 9.3] [Reference Citation Analysis]
54 Jiang T, Gao J, Jiang L, Xu L, Zhao C, Su X, Shen Y, Gu W, Kong X, Yang Y, Gao F. Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy. Front Mol Neurosci 2021;14:699574. [PMID: 34489640 DOI: 10.3389/fnmol.2021.699574] [Reference Citation Analysis]
55 Mefford HC. The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy. Epilepsy Curr 2019;19:307-9. [PMID: 31476917 DOI: 10.1177/1535759719871593] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
56 Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res 2017;129:17-25. [PMID: 27875746 DOI: 10.1016/j.eplepsyres.2016.11.002] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 2.7] [Reference Citation Analysis]
57 Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom TM, Meitinger T, Zimprich F. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. J Med Genet 2020;57:624-33. [PMID: 32086284 DOI: 10.1136/jmedgenet-2019-106658] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
58 Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H. The role of genetic testing in epilepsy diagnosis and management. Expert Rev Mol Diagn 2017;17:739-50. [PMID: 28548558 DOI: 10.1080/14737159.2017.1335598] [Cited by in Crossref: 32] [Cited by in F6Publishing: 25] [Article Influence: 6.4] [Reference Citation Analysis]
59 Rossi M, El-Khechen D, Black MH, Farwell Hagman KD, Tang S, Powis Z. Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders. Pediatr Neurol 2017;70:34-43.e2. [PMID: 28330790 DOI: 10.1016/j.pediatrneurol.2017.01.033] [Cited by in Crossref: 42] [Cited by in F6Publishing: 38] [Article Influence: 8.4] [Reference Citation Analysis]
60 Shoubridge C, Harvey RJ, Dudding-byth T. IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. Human Mutation 2019;40:5-24. [DOI: 10.1002/humu.23670] [Cited by in Crossref: 22] [Cited by in F6Publishing: 17] [Article Influence: 5.5] [Reference Citation Analysis]
61 Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med 2018;20:98-108. [PMID: 28661489 DOI: 10.1038/gim.2017.75] [Cited by in Crossref: 31] [Cited by in F6Publishing: 33] [Article Influence: 6.2] [Reference Citation Analysis]
62 Duran D, Karschnia P, Gaillard JR, Karimy JK, Youngblood MW, Diluna ML, Matouk CC, Aagaard-kienitz B, Smith ER, Orbach DB, Rodesch G, Berenstein A, Gunel M, Kahle KT. Human genetics and molecular mechanisms of vein of Galen malformation. Journal of Neurosurgery: Pediatrics 2018;21:367-74. [DOI: 10.3171/2017.9.peds17365] [Cited by in Crossref: 10] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
63 Sharma P, Hussain A, Greenwood R. Precision in pediatric epilepsy. F1000Res 2019;8:F1000 Faculty Rev-163. [PMID: 30800292 DOI: 10.12688/f1000research.16494.1] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.7] [Reference Citation Analysis]
64 Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurol Genet 2017;3:e143. [PMID: 28357411 DOI: 10.1212/NXG.0000000000000143] [Cited by in Crossref: 44] [Cited by in F6Publishing: 16] [Article Influence: 8.8] [Reference Citation Analysis]
65 Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Mizuguchi T, Matsumoto N. Novel CLTC variants cause new brain and kidney phenotypes. J Hum Genet 2021. [PMID: 34230591 DOI: 10.1038/s10038-021-00957-3] [Reference Citation Analysis]
66 Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P; EuroEPINOMICS CoGIE Consortium. Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One 2018;13:e0202022. [PMID: 30148849 DOI: 10.1371/journal.pone.0202022] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
67 Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. Front Pediatr 2020;8:373. [PMID: 32733828 DOI: 10.3389/fped.2020.00373] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
68 Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N. Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet 2020;106:13-25. [PMID: 31839203 DOI: 10.1016/j.ajhg.2019.11.011] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 4.7] [Reference Citation Analysis]
69 Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Koh S. Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr 2017;171:863-71. [PMID: 28759667 DOI: 10.1001/jamapediatrics.2017.1743] [Cited by in Crossref: 81] [Cited by in F6Publishing: 65] [Article Influence: 16.2] [Reference Citation Analysis]
70 Horák O, Burešová M, Kolář S, Španělová K, Jeřábková B, Gaillyová R, Česká K, Réblová K, Šoukalová J, Zídková J, Fajkusová L, Ošlejšková H, Rektor I, Danhofer P. Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation. Epilepsy & Behavior 2022;128:108564. [DOI: 10.1016/j.yebeh.2022.108564] [Reference Citation Analysis]
71 Alcázar-Fabra M, Rodríguez-Sánchez F, Trevisson E, Brea-Calvo G. Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations. Free Radic Biol Med 2021;167:141-80. [PMID: 33677064 DOI: 10.1016/j.freeradbiomed.2021.02.046] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
72 Borlot F, de Almeida BI, Combe SL, Andrade DM, Filloux FM, Myers KA. Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability. Epilepsia 2019;60:1661-9. [PMID: 31273778 DOI: 10.1111/epi.16273] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 4.7] [Reference Citation Analysis]
73 Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel A, Mosca-boidron A, Masurel-paulet A, Lehalle D, Jean-marçais N, Lefebvre M, Vabres P, El Chehadeh-djebbar S, Philippe C, Tran Mau-them F, St-onge J, Jouan T, Chevarin M, Poé C, Carmignac V, Vitobello A, Callier P, Rivière J, Faivre L, Thauvin-robinet C; Orphanomix Physicians' Group. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med 2018;20:645-54. [DOI: 10.1038/gim.2017.162] [Cited by in Crossref: 80] [Cited by in F6Publishing: 76] [Article Influence: 16.0] [Reference Citation Analysis]
74 Yen JL, Garcia S, Montana A, Harris J, Chervitz S, Morra M, West J, Chen R, Church DM. A variant by any name: quantifying annotation discordance across tools and clinical databases. Genome Med 2017;9:7. [PMID: 28122645 DOI: 10.1186/s13073-016-0396-7] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 6.0] [Reference Citation Analysis]
75 Chuan Z, Ruikun C, Qian L, Shiyue M, Shengju H, Yong Y, Haibo L, Neng X, Yong Z, Huiqin X, Weijia W, Ling H, Bingbo Z, Zhang Q, Yan W, Zongfu C, Xu M. Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy. Front Genet 2022;13:869210. [DOI: 10.3389/fgene.2022.869210] [Reference Citation Analysis]
76 Tao H, Chen Z, Wu J, Chen J, Chen Y, Fu J, Sun C, Zhou H, Zhong W, Zhou X, Li K. DNA Methylation Signature of Epileptic Encephalopathy-Related Pathogenic Genes Encoding Ion Channels in Temporal Lobe Epilepsy. Front Neurol 2021;12:692412. [PMID: 34393975 DOI: 10.3389/fneur.2021.692412] [Reference Citation Analysis]
77 Méjécase C, Way CM, Owen N, Moosajee M. Ocular Phenotype Associated with DYRK1A Variants. Genes (Basel) 2021;12:234. [PMID: 33562844 DOI: 10.3390/genes12020234] [Reference Citation Analysis]
78 Guerrini R, Parrini E, Marini C, Mei D. What is the role of next generation sequencing in status epilepticus? Epilepsy Behav 2019;101:106373. [PMID: 31300382 DOI: 10.1016/j.yebeh.2019.06.017] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
79 Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K. Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases. Clin Genet 2018;93:78-83. [PMID: 28378410 DOI: 10.1111/cge.13031] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 3.2] [Reference Citation Analysis]
80 Bryant EM, Millichap JJ, Spinelli E, Calhoun JD, Miller C, Giannelli J, Wolak J, Sanders V, Carvill GL, Charrow J. Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation. Am J Med Genet A 2020;182:1460-5. [PMID: 32267060 DOI: 10.1002/ajmg.a.61553] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
81 Leonardi E, Bellini M, Aspromonte MC, Polli R, Mercante A, Ciaccio C, Granocchio E, Bettella E, Donati I, Cainelli E, Boni S, Sartori S, Pantaleoni C, Boniver C, Murgia A. A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). Genes (Basel) 2020;11:E344. [PMID: 32214004 DOI: 10.3390/genes11030344] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
82 Hinze SJ, Jackson MR, Lie S, Jolly L, Field M, Barry SC, Harvey RJ, Shoubridge C. Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. Transl Psychiatry 2017;7:e1110. [PMID: 28463240 DOI: 10.1038/tp.2017.81] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 3.6] [Reference Citation Analysis]
83 Møller RS, Hammer TB, Rubboli G, Lemke JR, Johannesen KM. From next-generation sequencing to targeted treatment of non-acquired epilepsies. Expert Review of Molecular Diagnostics 2019;19:217-28. [DOI: 10.1080/14737159.2019.1573144] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 7.3] [Reference Citation Analysis]
84 Amadori E, Scala M, Cereda GS, Vari MS, Marchese F, Di Pisa V, Mancardi MM, Giacomini T, Siri L, Vercellino F, Serino D, Orsini A, Bonuccelli A, Bagnasco I, Papa A, Minetti C, Cordelli DM, Striano P. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project. Ital J Pediatr 2020;46:92. [PMID: 32631363 DOI: 10.1186/s13052-020-00860-1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
85 Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A, Guerrini R; Clinical Study Group. Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes: HUMAN MUTATION. Human Mutation 2017;38:216-25. [DOI: 10.1002/humu.23149] [Cited by in Crossref: 96] [Cited by in F6Publishing: 81] [Article Influence: 16.0] [Reference Citation Analysis]
86 Hebbar M, Mefford HC. Recent advances in epilepsy genomics and genetic testing. F1000Res 2020;9:F1000 Faculty Rev-185. [PMID: 32201576 DOI: 10.12688/f1000research.21366.1] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 5.5] [Reference Citation Analysis]
87 Tumienė B, Peterlin B, Maver A, Utkus A. Contemporary scope of inborn errors of metabolism involving epilepsy or seizures. Metab Brain Dis 2018;33:1781-6. [PMID: 30006695 DOI: 10.1007/s11011-018-0288-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
88 Li X, Li Z, Liang X, Liu D, Jiang M, Gao L, Li H, Tang X, Shi Y, Li B, He N, Li B, Bian W, Yi Y, Cheng C, Wang J. CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications. Front Mol Neurosci 2022;15:860662. [DOI: 10.3389/fnmol.2022.860662] [Reference Citation Analysis]
89 Sheidley BR, Smith LA, Helbig KL. Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling. Curr Genet Med Rep 2018;6:73-82. [DOI: 10.1007/s40142-018-0139-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
90 Choi HS, Ko A, Kim SH, Lee ST, Choi JR, Lee JS, Kim HD, Kang HC. Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome. Epilepsia 2021;62:1656-64. [PMID: 34008866 DOI: 10.1111/epi.16924] [Reference Citation Analysis]
91 Ling T, Law C, Yan K, Fong N, Wong K, Lee K, Chu WC, Brea-calvo G, Lam C. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy. Clinica Chimica Acta 2019;497:88-94. [DOI: 10.1016/j.cca.2019.07.016] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
92 Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan BM, Damiano JA, Hildebrand MS, Berkovic SF, O’brien TJ, Kwan P. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. Epilepsy Research 2017;131:1-8. [DOI: 10.1016/j.eplepsyres.2017.02.001] [Cited by in Crossref: 55] [Cited by in F6Publishing: 48] [Article Influence: 11.0] [Reference Citation Analysis]
93 Tsai MH, Chan CK, Chang YC, Lin CH, Liou CW, Chang WN, Ng CC, Lim KS, Hwang DY. Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel. Front Neurol 2018;9:515. [PMID: 30034362 DOI: 10.3389/fneur.2018.00515] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 2.8] [Reference Citation Analysis]
94 Uddin M, Wang Y, Woodbury-Smith M. Artificial intelligence for precision medicine in neurodevelopmental disorders. NPJ Digit Med 2019;2:112. [PMID: 31799421 DOI: 10.1038/s41746-019-0191-0] [Cited by in Crossref: 27] [Cited by in F6Publishing: 15] [Article Influence: 9.0] [Reference Citation Analysis]
95 Helbig I, von Deimling M, Marsh ED. Epileptic Encephalopathies as Neurodegenerative Disorders. Adv Neurobiol 2017;15:295-315. [PMID: 28674986 DOI: 10.1007/978-3-319-57193-5_11] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
96 Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. Eur J Hum Genet 2019;27:408-21. [PMID: 30552426 DOI: 10.1038/s41431-018-0299-8] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 5.5] [Reference Citation Analysis]
97 XiangWei W, Jiang Y, Yuan H. De Novo Mutations and Rare Variants Occurring in NMDA Receptors. Curr Opin Physiol 2018;2:27-35. [PMID: 29756080 DOI: 10.1016/j.cophys.2017.12.013] [Cited by in Crossref: 49] [Cited by in F6Publishing: 43] [Article Influence: 9.8] [Reference Citation Analysis]
98 Zhao G, Li K, Li B, Wang Z, Fang Z, Wang X, Zhang Y, Luo T, Zhou Q, Wang L, Xie Y, Wang Y, Chen Q, Xia L, Tang Y, Tang B, Xia K, Li J. Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans. Nucleic Acids Res 2020;48:D913-26. [PMID: 31642496 DOI: 10.1093/nar/gkz923] [Cited by in Crossref: 7] [Cited by in F6Publishing: 12] [Article Influence: 3.5] [Reference Citation Analysis]
99 Almannai M, El-Hattab AW. Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders. Pediatr Clin North Am 2018;65:279-99. [PMID: 29502914 DOI: 10.1016/j.pcl.2017.11.007] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.6] [Reference Citation Analysis]
100 Xia L, Ou J, Li K, Guo H, Hu Z, Bai T, Zhao J, Xia K, Zhang F. Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders. Autism Res 2020;13:382-96. [PMID: 31647196 DOI: 10.1002/aur.2229] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
101 Jackson MR, Loring KE, Homan CC, Thai MH, Määttänen L, Arvio M, Jarvela I, Shaw M, Gardner A, Gecz J, Shoubridge C. Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. Life Sci Alliance 2019;2:e201900386. [PMID: 31439632 DOI: 10.26508/lsa.201900386] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
102 Sánchez Fernández I, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study. Neurology 2019:10. [PMID: 30610098 DOI: 10.1212/WNL.0000000000006850] [Cited by in Crossref: 35] [Cited by in F6Publishing: 9] [Article Influence: 11.7] [Reference Citation Analysis]
103 Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nat Commun 2019;10:2506. [PMID: 31175295 DOI: 10.1038/s41467-019-10482-9] [Cited by in Crossref: 19] [Cited by in F6Publishing: 8] [Article Influence: 6.3] [Reference Citation Analysis]
104 Stojanovic JR, Miletic A, Peterlin B, Maver A, Mijovic M, Borlja N, Dimitrijevic B, Soldatovic I, Cuturilo G. Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability. J Child Neurol 2020;35:116-31. [PMID: 31623504 DOI: 10.1177/0883073819879835] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 3.3] [Reference Citation Analysis]
105 Helbig I, Heinzen EL, Mefford HC; International League Against Epilepsy Genetics Commission. Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics. Epilepsia 2018;59:1138-47. [PMID: 29741288 DOI: 10.1111/epi.14193] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 1.8] [Reference Citation Analysis]
106 Epilepsy Genetics Initiative. The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. Epilepsia 2019;60:797-806. [PMID: 30951195 DOI: 10.1111/epi.14698] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 7.3] [Reference Citation Analysis]
107 Helbig I, Ellis CA. Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers. Neuropharmacology 2020;172:107970. [PMID: 32413583 DOI: 10.1016/j.neuropharm.2020.107970] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
108 Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. Eur J Hum Genet 2021;29:88-98. [PMID: 32641752 DOI: 10.1038/s41431-020-0679-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
109 Yang M, Xu B, Wang J, Zhang Z, Xie H, Wang H, Hu T, Liu S. Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. Epilepsy Res 2021;170:106552. [PMID: 33486335 DOI: 10.1016/j.eplepsyres.2021.106552] [Reference Citation Analysis]
110 Wong LC, Singh S, Wang HP, Hsu CJ, Hu SC, Lee WT. FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms. Int J Mol Sci 2019;20:E4176. [PMID: 31454984 DOI: 10.3390/ijms20174176] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 4.7] [Reference Citation Analysis]
111 Costain G, Cordeiro D, Matviychuk D, Mercimek-Andrews S. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. Neuroscience 2019;418:291-310. [PMID: 31487502 DOI: 10.1016/j.neuroscience.2019.08.016] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 10.0] [Reference Citation Analysis]
112 Hoelz H, Herdl C, Gerstl L, Tacke M, Vill K, von Stuelpnagel C, Rost I, Hoertnagel K, Abicht A, Hollizeck S, Larsen LHG, Borggraefe I. Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center. Clin EEG Neurosci 2020;51:61-9. [DOI: 10.1177/1550059419876518] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
113 Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet J Rare Dis 2019;14:38. [PMID: 30744660 DOI: 10.1186/s13023-019-1020-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 5.7] [Reference Citation Analysis]
114 Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022. [PMID: 35503712 DOI: 10.1111/epi.17239] [Reference Citation Analysis]
115 Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet 2018;102:557-73. [PMID: 29576218 DOI: 10.1016/j.ajhg.2018.02.014] [Cited by in Crossref: 33] [Cited by in F6Publishing: 30] [Article Influence: 8.3] [Reference Citation Analysis]
116 von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium., EuroEPINOMICS-RES NLES Working Group. DNM1 encephalopathy: A new disease of vesicle fission. Neurology 2017;89:385-94. [PMID: 28667181 DOI: 10.1212/WNL.0000000000004152] [Cited by in Crossref: 40] [Cited by in F6Publishing: 21] [Article Influence: 8.0] [Reference Citation Analysis]
117 Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. Ann Clin Transl Neurol 2019;6:1319-26. [PMID: 31353862 DOI: 10.1002/acn3.50799] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
118 Tang W, Liu D, Traynelis SF, Yuan H. Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders. Neuropharmacology 2020;177:108247. [PMID: 32712275 DOI: 10.1016/j.neuropharm.2020.108247] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 2.5] [Reference Citation Analysis]
119 Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. Mol Genet Genomic Med 2018;6:186-99. [PMID: 29314763 DOI: 10.1002/mgg3.355] [Cited by in Crossref: 35] [Cited by in F6Publishing: 34] [Article Influence: 8.8] [Reference Citation Analysis]
120 Fietz M, Alsayed M, Burke D, Cohen-pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Molecular Genetics and Metabolism 2016;119:160-7. [DOI: 10.1016/j.ymgme.2016.07.011] [Cited by in Crossref: 42] [Cited by in F6Publishing: 38] [Article Influence: 7.0] [Reference Citation Analysis]
121 Striessnig J. Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies. Front Synaptic Neurosci 2021;13:634760. [PMID: 33746731 DOI: 10.3389/fnsyn.2021.634760] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
122 Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet Med 2019;21:2496-503. [DOI: 10.1038/s41436-019-0531-0] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 7.0] [Reference Citation Analysis]
123 Hwang ST, Stevens SJ, Fu AX, Proteasa SV. Intractable Generalized Epilepsy: Therapeutic Approaches. Curr Neurol Neurosci Rep 2019;19:16. [PMID: 30806817 DOI: 10.1007/s11910-019-0933-z] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]
124 Bayat A, Bayat M, Rubboli G, Møller RS. Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. Genes (Basel) 2021;12:1051. [PMID: 34356067 DOI: 10.3390/genes12071051] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
125 Chow J, Jensen M, Amini H, Hormozdiari F, Penn O, Shifman S, Girirajan S, Hormozdiari F. Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. Genome Med 2019;11:65. [PMID: 31653223 DOI: 10.1186/s13073-019-0678-y] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
126 Chen WL, Mefford HC. Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations. Neurotherapeutics 2021. [PMID: 34532824 DOI: 10.1007/s13311-021-01121-7] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
127 Galama WH, Verhaagen-van den Akker SLJ, Lefeber DJ, Feenstra I, Verrips A. ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation. JIMD Rep 2018;40:11-6. [PMID: 28887793 DOI: 10.1007/8904_2017_53] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
128 Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EE. denovo-db: a compendium of human de novo variants. Nucleic Acids Res 2017;45:D804-11. [PMID: 27907889 DOI: 10.1093/nar/gkw865] [Cited by in Crossref: 121] [Cited by in F6Publishing: 91] [Article Influence: 20.2] [Reference Citation Analysis]
129 Carvill GL, Matheny T, Hesselberth J, Demarest S. Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology. Neurotherapeutics 2021;18:1500-14. [PMID: 34648141 DOI: 10.1007/s13311-021-01137-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
130 Gall K, Izzo E, Seppälä EH, Alakurtti K, Koskinen L, Saarinen I, Singh A, Myllykangas S, Koskenvuo J, Alastalo TP. Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis. PLoS One 2021;16:e0255933. [PMID: 34469436 DOI: 10.1371/journal.pone.0255933] [Reference Citation Analysis]
131 Long K, Wang H, Song Z, Yin X, Wang Y. EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation. Epilepsy Behav 2020;105:106955. [PMID: 32062104 DOI: 10.1016/j.yebeh.2020.106955] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
132 Perucca P. Genetics of Focal Epilepsies: What Do We Know and Where Are We Heading? Epilepsy Curr 2018;18:356-62. [PMID: 30568546 DOI: 10.5698/1535-7597.18.6.356] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
133 Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. Genet Med 2019;21:3-16. [PMID: 29760485 DOI: 10.1038/s41436-018-0024-6] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 10.3] [Reference Citation Analysis]
134 Smith LA, Ullmann JF, Olson HE, Achkar CM, Truglio G, Kelly M, Rosen-Sheidley B, Poduri A. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol 2017;32:429-36. [PMID: 28056630 DOI: 10.1177/0883073816685654] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
135 Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain 2017;140:2322-36. [PMID: 29050398 DOI: 10.1093/brain/awx195] [Cited by in Crossref: 35] [Cited by in F6Publishing: 31] [Article Influence: 7.0] [Reference Citation Analysis]
136 Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L. Mutations in HECW2 are associated with intellectual disability and epilepsy. J Med Genet 2016;53:697-704. [PMID: 27334371 DOI: 10.1136/jmedgenet-2016-103814] [Cited by in Crossref: 34] [Cited by in F6Publishing: 32] [Article Influence: 5.7] [Reference Citation Analysis]
137 Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S, Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM, Stephen E, Webb A, Vincent A, Wilson M. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 2019;142:2303-18. [PMID: 31302675 DOI: 10.1093/brain/awz195] [Cited by in Crossref: 75] [Cited by in F6Publishing: 64] [Article Influence: 37.5] [Reference Citation Analysis]
138 Sands TT, Choi H. Genetic Testing in Pediatric Epilepsy. Curr Neurol Neurosci Rep 2017;17:45. [PMID: 28405954 DOI: 10.1007/s11910-017-0753-y] [Cited by in Crossref: 21] [Cited by in F6Publishing: 15] [Article Influence: 4.2] [Reference Citation Analysis]
139 Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR; EuroEPINOMICS RES Consortium. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet 2018;50:1048-53. [DOI: 10.1038/s41588-018-0143-7] [Cited by in Crossref: 127] [Cited by in F6Publishing: 103] [Article Influence: 31.8] [Reference Citation Analysis]
140 Poduri A. When Should Genetic Testing Be Performed in Epilepsy Patients? Epilepsy Curr 2017;17:16-22. [PMID: 28331464 DOI: 10.5698/1535-7511-17.1.16] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 4.0] [Reference Citation Analysis]
141 Su T, Yan Y, Hu Q, Liu Y, Xu S. De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations. Molec Gen & Gen Med. [DOI: 10.1002/mgg3.1874] [Reference Citation Analysis]
142 Perszyk RE, Myers SJ, Yuan H, Gibb AJ, Furukawa H, Sobolevsky AI, Traynelis SF. Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif. J Physiol 2020;598:3071-83. [PMID: 32468591 DOI: 10.1113/JP278086] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
143 Myers KA, Simard-Tremblay E, Saint-Martin C. X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion. Pediatr Neurol 2020;108:113-6. [PMID: 32299744 DOI: 10.1016/j.pediatrneurol.2020.02.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
144 Lewis-Smith D, Ellis CA, Helbig I, Thomas RH. Early-onset genetic epilepsies reaching adult clinics. Brain 2020;143:e19. [PMID: 32203577 DOI: 10.1093/brain/awaa029] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
145 Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ. Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. Am J Med Genet C Semin Med Genet 2020;184:1030-41. [PMID: 33274544 DOI: 10.1002/ajmg.c.31871] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
146 Lebrun N, Giurgea I, Goldenberg A, Dieux A, Afenjar A, Ghoumid J, Diebold B, Mietton L, Briand-Suleau A, Billuart P, Bienvenu T. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. Eur J Hum Genet. 2018;26:107-116. [PMID: 29203834 DOI: 10.1038/s41431-017-0033-y] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 2.6] [Reference Citation Analysis]
147 Farrell JS, Nguyen QA, Soltesz I. Resolving the Micro-Macro Disconnect to Address Core Features of Seizure Networks. Neuron 2019;101:1016-28. [PMID: 30897354 DOI: 10.1016/j.neuron.2019.01.043] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 6.0] [Reference Citation Analysis]
148 Xu Y, Song R, Chen W, Strong K, Shrey D, Gedela S, Traynelis SF, Zhang G, Yuan H. Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy. Ann Clin Transl Neurol 2021;8:1480-94. [PMID: 34227748 DOI: 10.1002/acn3.51406] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
149 Perry MS, Poduri A. Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies. Epilepsy Curr 2018;18:24-6. [PMID: 29844755 DOI: 10.5698/1535-7597.18.1.24] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
150 Rim JH, Kim SH, Hwang IS, Kwon SS, Kim J, Kim HW, Cho MJ, Ko A, Youn SE, Kim J, Lee YM, Chung HJ, Lee JS, Kim HD, Choi JR, Lee ST, Kang HC. Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. BMC Med Genomics 2018;11:6. [PMID: 29390993 DOI: 10.1186/s12920-018-0320-7] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 5.3] [Reference Citation Analysis]
151 Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher R, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, Mcgregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genet Med 2019;21:1058-64. [DOI: 10.1038/s41436-018-0290-3] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
152 Yang H, Gong P, Jiao X, Niu Y, Zhou Q, Zhang Y, Yang Z. De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms. Front Neurol 2021;12:733178. [PMID: 34803881 DOI: 10.3389/fneur.2021.733178] [Reference Citation Analysis]
153 Zhang J, Tang W, Bhatia NK, Xu Y, Paudyal N, Liu D, Kim S, Song R, XiangWei W, Shaulsky G, Myers SJ, Dobyns W, Jayaraman V, Traynelis SF, Yuan H, Bozarth X. A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology. Front Genet 2021;12:694312. [PMID: 34413877 DOI: 10.3389/fgene.2021.694312] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
154 Tsang MH, Leung GK, Ho AC, Yeung KS, Mak CC, Pei SL, Yu MH, Kan AS, Chan KY, Kwong KL, Lee SL, Yung AW, Fung CW, Chung BH. Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. Epilepsia Open 2019;4:63-72. [PMID: 30868116 DOI: 10.1002/epi4.12282] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 3.0] [Reference Citation Analysis]
155 Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Clin Genet 2018;94:141-52. [PMID: 29574747 DOI: 10.1111/cge.13254] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 7.3] [Reference Citation Analysis]
156 Matthews E, Balestrini S, Sisodiya SM, Hanna MG. Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches. Lancet Child Adolesc Health 2020;4:536-47. [PMID: 32142633 DOI: 10.1016/S2352-4642(19)30425-0] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
157 Ko A, Youn SE, Kim SH, Lee JS, Kim S, Choi JR, Kim HD, Lee S, Kang H. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy. Epilepsy Research 2018;141:48-55. [DOI: 10.1016/j.eplepsyres.2018.02.003] [Cited by in Crossref: 41] [Cited by in F6Publishing: 33] [Article Influence: 10.3] [Reference Citation Analysis]
158 Fung CW, Kwong AK, Wong VC. Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. Epilepsia Open 2017;2:236-43. [PMID: 29588952 DOI: 10.1002/epi4.12055] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
159 Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A 2018;176:311-8. [PMID: 29193663 DOI: 10.1002/ajmg.a.38561] [Cited by in Crossref: 27] [Cited by in F6Publishing: 24] [Article Influence: 5.4] [Reference Citation Analysis]
160 Ruan WC, Wang J, Yu YL, Che YP, Ding L, Li CX, Wang XD, Li HF. Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report. BMC Med Genet 2020;21:51. [PMID: 32171285 DOI: 10.1186/s12881-020-0988-3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
161 Ritter DM, Holland K. Genetic Testing in Epilepsy. Semin Neurol 2020;40:730-8. [PMID: 33176374 DOI: 10.1055/s-0040-1719070] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
162 Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet 2017;54:460-70. [PMID: 28377535 DOI: 10.1136/jmedgenet-2016-104509] [Cited by in Crossref: 94] [Cited by in F6Publishing: 91] [Article Influence: 18.8] [Reference Citation Analysis]
163 Rochtus A, Olson HE, Smith L, Keith LG, El Achkar C, Taylor A, Mahida S, Park M, Kelly M, Shain C, Rockowitz S, Rosen Sheidley B, Poduri A. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 2020;61:249-58. [PMID: 31957018 DOI: 10.1111/epi.16427] [Cited by in Crossref: 22] [Cited by in F6Publishing: 22] [Article Influence: 11.0] [Reference Citation Analysis]
164 Delanty N, White M, Benson K, Mccormack M, Heavin S, Comerford E, Gangadharan N, Power K, Dunleavey B, El‐naggar H, Doherty C, Greally M, Cavalleri G, Fitzsimons M. Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care. Epilepsia 2019;60:1670-7. [DOI: 10.1111/epi.16278] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 2.3] [Reference Citation Analysis]
165 Amin JB, Moody GR, Wollmuth LP. From bedside-to-bench: What disease-associated variants are teaching us about the NMDA receptor. J Physiol 2021;599:397-416. [PMID: 32144935 DOI: 10.1113/JP278705] [Cited by in Crossref: 10] [Cited by in F6Publishing: 4] [Article Influence: 5.0] [Reference Citation Analysis]
166 Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Mol Syndromol 2016;7:210-9. [PMID: 27781031 DOI: 10.1159/000448369] [Cited by in Crossref: 64] [Cited by in F6Publishing: 57] [Article Influence: 10.7] [Reference Citation Analysis]
167 Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW. HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. Am J Hum Genet 2019;104:1040-59. [PMID: 31079900 DOI: 10.1016/j.ajhg.2019.03.024] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
168 Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet 2016;25:3042-54. [PMID: 27270415 DOI: 10.1093/hmg/ddw157] [Cited by in Crossref: 6] [Cited by in F6Publishing: 9] [Article Influence: 1.0] [Reference Citation Analysis]
169 Garone C, Minczuk M, Alcázar-fabra M, Trevisson E, Brea-calvo G. Clinical syndromes associated with Coenzyme Q10 deficiency. Essays in Biochemistry 2018;62:377-98. [DOI: 10.1042/ebc20170107] [Cited by in Crossref: 48] [Cited by in F6Publishing: 27] [Article Influence: 12.0] [Reference Citation Analysis]
170 Mattera R, De Pace R, Bonifacino JS. The role of AP-4 in cargo export from the trans-Golgi network and hereditary spastic paraplegia. Biochem Soc Trans 2020;48:1877-88. [PMID: 33084855 DOI: 10.1042/BST20190664] [Reference Citation Analysis]
171 Moloney PB, Cavalleri GL, Delanty N. Epilepsy in the mTORopathies: opportunities for precision medicine. Brain Commun 2021;3:fcab222. [PMID: 34632383 DOI: 10.1093/braincomms/fcab222] [Reference Citation Analysis]
172 Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. Clin Genet 2018;93:266-74. [PMID: 28556953 DOI: 10.1111/cge.13061] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 3.2] [Reference Citation Analysis]
173 Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci 2017;20:1043-51. [PMID: 28628100 DOI: 10.1038/nn.4589] [Cited by in Crossref: 84] [Cited by in F6Publishing: 76] [Article Influence: 16.8] [Reference Citation Analysis]