Article
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Dec 2002
Meadows Laurence S, Malhotra Jyoti, Loukas Andrew, Thyagarajan Veena, Kazen-Gillespie Kristin A, Koopman Matthew C, Kriegler Steven, Isom Lori L, Ragsdale David S
Abstract excerpt
Generalized epilepsy with febrile seizures plus type 1 is an inherited human epileptic syndrome, associated with a cysteine-to-tryptophan (C121W) mutation in the extracellular immunoglobin domain of the auxiliary beta1 subunit of the voltage-gated sodium channel. The mutation disrupts beta1 function, but how this leads to epilepsy is not understood. In this study, we make several observations that may be relevant...
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