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Encephalopathy and SCN1A mutations

โœ Scribed by Shan Tang; Jean Pierre Lin; Elaine Hughes; Ata Siddiqui; Ming Lim; Karine Lascelles


Book ID
109113133
Publisher
Wiley (Blackwell Publishing)
Year
2011
Tongue
English
Weight
151 KB
Volume
52
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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