Article
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
Neurobiology of disease - 1 Feb 2013
Ohmori Iori, Ouchida Mamoru, Kobayashi Katsuhiro, Jitsumori Yoshimi, Mori Akiko, Michiue Hiroyuki, Nishiki Teiichi, Ohtsuka Yoko, Matsui Hideki
Abstract excerpt
Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Na(v)1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome. We performed a mutational analysis of all coding exons of CACNA1A in 48 subjects with Dravet syndrome. To assess...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.