The SCN1A gene variants and epileptic encephalopathies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg201377.pdf
Reference118 articles.
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4. Isom, L. L., DeJongh, K. S. & Catterall, W. A. Auxiliary subunits of voltage-gated ion channels. Neuron 12, 1183–1194 (1994).
5. Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I. et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24, 343–345 (2000).
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