Article
A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.
Epilepsia - 1 Mar 2012
Egri Csilla, Vilin Yuriy Y, Ruben Peter C
Abstract excerpt
PURPOSE: A mutation in the β(1) subunit of the voltage-gated sodium (Na(V)) channel, β(1) (C121W), causes genetic epilepsy with febrile seizures plus (GEFS+), a pediatric syndrome in which febrile seizures are the predominant phenotype. Previous studies of molecular mechanisms underlying neuronal hyperexcitability caused by this mutation were conducted at room temperature. The prevalence of seizures during...
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