𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

✍ Scribed by Carla Marini; Davide Mei; J. Helen Cross; Renzo Guerrini


Book ID
109110033
Publisher
Wiley (Blackwell Publishing)
Year
2006
Tongue
English
Weight
244 KB
Volume
47
Category
Article
ISSN
0013-9580

No coin nor oath required. For personal study only.


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,