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Sodium channel SCN1A and epilepsy: Mutations and mechanisms

โœ Scribed by Andrew Escayg; Alan L. Goldin

Book ID
109112768
Publisher
Wiley (Blackwell Publishing)
Year
2010
Tongue
English
Weight
264 KB
Volume
51
Category
Article
ISSN
0013-9580

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SCN1A mutations and epilepsy
SCN1A mutations and epilepsy
โœ John C. Mulley; Ingrid E. Scheffer; Steven Petrou; Leanne M. Dibbens; Samuel F. ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 167 KB

SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. The 26 exons of SCN1A are spread over 100 kb of genomic DNA. Genetic defects in the coding sequence lead to generalized epilepsy with febrile seizures plus (GEFS+)