Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A

Nat Genet. 2000 Apr;24(4):343-5

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Gene(s): SCN1A