CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Nav1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome.We...

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Bibliographic Details
Main Authors: Iori Ohmori, Mamoru Ouchida, Katsuhiro Kobayashi, Yoshimi Jitsumori, Akiko Mori, Hiroyuki Michiue, Teiichi Nishiki, Yoko Ohtsuka, Hideki Matsui
Format: Article
Language:English
Published: Elsevier 2013-02-01
Series:Neurobiology of Disease
Subjects:
CACNA1A
Epilepsy
SCN1A
Electrophysiology
Molecular genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996112003440

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http://www.sciencedirect.com/science/article/pii/S0969996112003440

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