Article
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Molecular neurobiology - 1 Jan 2015
Chen Y-J, Shi Y-W, Xu H-Q, Chen M-L, Gao M-M, Sun W-W, Tang B, Zeng Y, Liao W-P
Abstract excerpt
Mutations in the sodium channel gene, SCN1A (NaV1.1), have been linked to a spectrum of epilepsy syndromes, and many of these mutations occur in the pore region of the channel. Electrophysiological characterization has revealed that most SCN1A mutations in the pore region result in complete loss of function. SCN3A mutations have also been identified in patients with epilepsy; however, mutations in this pore...
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