Article
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.
Neuroscience - 1 Jan 2001
Kearney J A, Plummer N W, Smith M R, Kapur J, Cummins T R, Waxman S G, Goldin A L, Meisler M H
Abstract excerpt
The GAL879-881QQQ mutation in the cytoplasmic S4-S5 linker of domain 2 of the rat brain IIA sodium channel (Na(v)1.2) results in slowed inactivation and increased persistent current when expressed in Xenopus oocytes. The neuron-specific enolase promoter was used to direct in vivo expression of the mutated channel in transgenic mice. Three transgenic lines exhibited seizures, and line Q54 was characterized in...
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