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Clinical spectrum of SCN1A mutations

โœ Scribed by Antonio Gambardella; Carla Marini


Book ID
109111261
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
58 KB
Volume
50
Category
Article
ISSN
0013-9580

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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+)

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