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For: Thiffault I, Farrow E, Smith L, Lowry J, Zellmer L, Black B, Abdelmoity A, Miller N, Soden S, Saunders C. PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. Am J Med Genet A 2016;170:1585-9. [PMID: 27016041 DOI: 10.1002/ajmg.a.37617] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 4.8] [Reference Citation Analysis]
Number Citing Articles
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2 Perez D, Hsieh DT, Rohena L. Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. Am J Med Genet 2017;173:1625-30. [DOI: 10.1002/ajmg.a.38233] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 3.8] [Reference Citation Analysis]
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7 Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J. A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Mol Psychiatry 2019;24:241-51. [PMID: 29892053 DOI: 10.1038/s41380-018-0066-9] [Cited by in Crossref: 52] [Cited by in F6Publishing: 45] [Article Influence: 13.0] [Reference Citation Analysis]
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10 Stosser MB, Lindy AS, Butler E, Retterer K, Piccirillo-Stosser CM, Richard G, McKnight DA. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. Genet Med 2018;20:403-10. [PMID: 28837158 DOI: 10.1038/gim.2017.114] [Cited by in Crossref: 63] [Cited by in F6Publishing: 56] [Article Influence: 12.6] [Reference Citation Analysis]
11 Lamers D, Landi S, Mezzena R, Baroncelli L, Pillai V, Cruciani F, Migliarini S, Mazzoleni S, Pasqualetti M, Passafaro M, Bassani S, Ratto GM. Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder. Cells 2022;11:1939. [PMID: 35741068 DOI: 10.3390/cells11121939] [Reference Citation Analysis]
12 Borghi R, Magliocca V, Trivisano M, Specchio N, Tartaglia M, Bertini E, Compagnucci C. Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids. Int J Mol Sci 2022;23:3506. [PMID: 35408865 DOI: 10.3390/ijms23073506] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
13 Nishioka M, Bundo M, Iwamoto K, Kato T. Somatic mutations in the human brain: implications for psychiatric research. Mol Psychiatry 2019;24:839-56. [PMID: 30087451 DOI: 10.1038/s41380-018-0129-y] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 5.8] [Reference Citation Analysis]
14 Kolc KL, Møller RS, Sadleir LG, Scheffer IE, Kumar R, Gecz J. PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. Adv Exp Med Biol 2020;1298:177-87. [PMID: 32852734 DOI: 10.1007/5584_2020_574] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
15 Yang X, Liu A, Xu X, Yang X, Zeng Q, Ye AY, Yu Z, Wang S, Huang AY, Wu X, Wu Q, Wei L, Zhang Y. Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort. Sci Rep. 2017;7:15677. [PMID: 29142202 DOI: 10.1038/s41598-017-15814-7] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 5.8] [Reference Citation Analysis]
16 Niazi R, Fanning EA, Depienne C, Sarmady M, Abou Tayoun AN. A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern. Hum Mutat 2019;40:243-57. [PMID: 30582250 DOI: 10.1002/humu.23701] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 3.7] [Reference Citation Analysis]
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18 Homan CC, Pederson S, To TH, Tan C, Piltz S, Corbett MA, Wolvetang E, Thomas PQ, Jolly LA, Gecz J. PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy. Neurobiol Dis 2018;116:106-19. [PMID: 29763708 DOI: 10.1016/j.nbd.2018.05.004] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 5.3] [Reference Citation Analysis]
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20 Smith L, Singhal N, El Achkar CM, Truglio G, Rosen Sheidley B, Sullivan J, Poduri A. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia 2018;59:679-89. [PMID: 29377098 DOI: 10.1111/epi.14003] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 8.0] [Reference Citation Analysis]
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24 Dadali EL, Mishina IA, Borovikov AO, Sharkov AA, Kanivets IV. [Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)]. Zh Nevrol Psikhiatr Im S S Korsakova 2020;120:55-61. [PMID: 32105270 DOI: 10.17116/jnevro202012001155] [Reference Citation Analysis]
25 Yang X, Chen J, Zheng B, Liu X, Cao Z, Wang X. PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review. Front Neurol 2020;11:311. [PMID: 32425876 DOI: 10.3389/fneur.2020.00311] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
26 Hayashi S, Inoue Y, Hattori S, Kaneko M, Shioi G, Miyakawa T, Takeichi M. Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice. Sci Rep 2017;7:5801. [PMID: 28724954 DOI: 10.1038/s41598-017-06374-x] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 4.6] [Reference Citation Analysis]
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29 Mancini M, Bassani S, Passafaro M. Right Place at the Right Time: How Changes in Protocadherins Affect Synaptic Connections Contributing to the Etiology of Neurodevelopmental Disorders. Cells 2020;9:E2711. [PMID: 33352832 DOI: 10.3390/cells9122711] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]