Functional and Biochemical Analysis of a Sodium Channel β1 Subunit Mutation Responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1

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 β1 subunit of the voltage-gated sodium channel. The mutation disrupts β1 function, but...

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Detalhes bibliográficos
Publicado no:J Neurosci
Main Authors: Meadows, Laurence S., Malhotra, Jyoti, Loukas, Andrew, Thyagarajan, Veena, Kazen-Gillespie, Kristin A., Koopman, Matthew C., Kriegler, Steven, Isom, Lori L., Ragsdale, David S.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2002
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ARTICLE
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6758463/
https://ncbi.nlm.nih.gov/pubmed/12486163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.22-24-10699.2002
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