Article
Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man.
The European journal of neuroscience - 1 Jun 2001
Alekov A K, Rahman M M, Mitrovic N, Lehmann-Horn F, Lerche H
Abstract excerpt
Generalized epilepsy with febrile seizures-plus (GEFS+) is a benign Mendelian syndrome characterized by childhood-onset febrile and afebrile seizures. Three point mutations within two voltage-gated sodium channel genes have been identified so far: in GEFS+ type 1 a mutation in the beta1-subunit gene SCN1B, and in GEFS+ type 2 two mutations within the neuronal alpha-subunit gene SCN1A. Functional expression of the...
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