Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

De novo mutations of the voltage-gated sodium channel gene SCN8A have recently been recognized as a cause of epileptic encephalopathy, which is characterized by refractory seizures with developmental delay and cognitive disability. We previously described the heterozygous SCN8A missense mutation p.A...

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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: Wagnon, Jacy L., Korn, Matthew J., Parent, Rachel, Tarpey, Taylor A., Jones, Julie M., Hammer, Michael F., Murphy, Geoffrey G., Parent, Jack M., Meisler, Miriam H.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
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Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4275076/
https://ncbi.nlm.nih.gov/pubmed/25227913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu470
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