Article
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
Nature neuroscience - 1 Sept 2006
Yu Frank H, Mantegazza Massimo, Westenbroek Ruth E, Robbins Carol A, Kalume Franck, Burton Kimberly A, Spain William J, McKnight G Stanley, Scheuer Todd, Catterall William A
Abstract excerpt
Voltage-gated sodium channels (Na(V)) are critical for initiation of action potentials. Heterozygous loss-of-function mutations in Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI). Homozygous null Scn1a-/- mice developed ataxia and died on postnatal day (P) 15 but could be sustained to P17.5 with manual feeding. Heterozygous Scn1a+/- mice had spontaneous seizures and sporadic deaths beginning...
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