EPILEPSY CAUSED BY PCDH19 GENE MUTATION: A REVIEW OF LITERATURE AND THE AUTHORS’ OBSERVATIONS

Mutation in the PCDH19 gene was first described by L.M. Dibbens et al. in 2008. Mutations in this gene are associated with epilepsy and mental retardation limited to females. The clinical manifestations that are observed in some patients with PCDH19 mutation and Dravet syndrome that is caused by mut...

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Main Authors: K. Yu. Mukhin, O. A. Pylaeva, A. F. Dolinina, S. Moiseeva, Yu. V. Verbitskaya, A. S. Petrukhin, G. Kluger, H. Holthausen, M. Staudt
Format: Article
Language:Russian
Published: ABV-press 2016-08-01
Series:Русский журнал детской неврологии
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Online Access:https://rjdn.abvpress.ru/jour/article/view/150