An Epilepsy Mutation in the Sodium Channel SCN1A That Decreases Channel Excitability

Mutations in three voltage-gated sodium channel genes, SCN1A, SCN2A, and SCN1B, and two GABA(A) receptor subunit genes, GABRG2 and GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+). A novel mutation, R859C, in the Na(v)1.1 sodium channel was identif...

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Vydáno v:J Neurosci
Hlavní autoři: Barela, Arthur J., Waddy, Salina P., Lickfett, Jay G., Hunter, Jessica, Anido, Aimee, Helmers, Sandra L., Goldin, Alan L., Escayg, Andrew
Médium: Artigo
Jazyk:Inglês
Vydáno: Society for Neuroscience 2006
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6675156/
https://ncbi.nlm.nih.gov/pubmed/16525050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2977-05.2006
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