Homo sapiens sodium voltage-gated channel alpha subunit 4 (SCN4A), Ref - Nucleotide

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[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].
Meng F, Shi Y, Ju D, Wang X, Dong H, Li X, Li X, Zhou X. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10; 41(4):450-455.
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia. [Epilepsia Open. 2024]
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, et al. Epilepsia Open. 2024 Jun; 9(3):951-959. Epub 2024 Mar 27.
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia. [J Neuromuscul Dis. 2024]
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Campanale C, Laghetti P, Saltarella I, Altamura C, Canioni E, Iosa E, Maggi L, Brugnoni R, Tacconi P, Desaphy JF. J Neuromuscul Dis. 2024; 11(3):725-734.

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Nucleotide