Article
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 3 Nov 2004
Spampanato J, Kearney J A, de Haan G, McEwen D P, Escayg A, Aradi I, MacDonald B T, Levin S I, Soltesz I, Benna P, Montalenti E, Isom L L, Goldin A L, Meisler M H
Abstract excerpt
A mutation in the sodium channel SCN1A was identified in a small Italian family with dominantly inherited generalized epilepsy with febrile seizures plus (GEFS+). The mutation, D1866Y, alters an evolutionarily conserved aspartate residue in the C-terminal cytoplasmic domain of the sodium channel alpha subunit. The mutation decreased modulation of the alpha subunit by beta1, which normally causes a negative shift...
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