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SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy

✍ Scribed by Masafumi Morimoto; Emi Mazaki; Akira Nishimura; Tomohiro Chiyonobu; Yasuko Sawai; Aki Murakami; Keiko Nakamura; Ikuyo Inoue; Ikuo Ogiwara; Tohru Sugimoto; Kazuhiro Yamakawa


Book ID
109109023
Publisher
Wiley (Blackwell Publishing)
Year
2006
Tongue
English
Weight
252 KB
Volume
47
Category
Article
ISSN
0013-9580

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πŸ“œ SIMILAR VOLUMES


Parental mosaicism can cause recurrent t
✍ Christel Depienne; Alexis Arzimanoglou; Oriane Trouillard; Estelle Fedirko; StΓ©p πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 181 KB

De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far. A few mutations inherited from an asymptomatic or mildly affected parent have been reported,