Article
SCN3A deficiency associated with increased seizure susceptibility.
Neurobiology of disease - 1 Jun 2017
Lamar Tyra, Vanoye Carlos G, Calhoun Jeffrey, Wong Jennifer C, Dutton Stacey B B, Jorge Benjamin S, Velinov Milen, Escayg Andrew, Kearney Jennifer A
Abstract excerpt
Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. In particular, mutations in the SCN3A gene, encoding the pore-forming Nav1.3 α subunit, have been identified in patients with focal epilepsy. Biophysical characterization of epilepsy-associated SCN3A variants suggests that both gain- and...
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