Article
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
American journal of human genetics - 1 Apr 2001
Wallace R H, Scheffer I E, Barnett S, Richards M, Dibbens L, Desai R R, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland G R, George A L, Mulley J C, Berkovic S F
Abstract excerpt
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis...
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