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

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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

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

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

PubMed ID
10742094 [ View in PubMed
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Abstract

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Polypeptides
NameUniProt ID
Sodium channel protein type 1 subunit alphaP35498Details