Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy

Patients with early infantile epileptic encephalopathy (EIEE) experience severe seizures and cognitive impairment and are at increased risk for sudden unexpected death in epilepsy (SUDEP). EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused by de novo missense mutations in the vol...

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Detalles Bibliográficos
Publicado en:Proc Natl Acad Sci U S A
Main Authors: Lopez-Santiago, Luis F., Yuan, Yukun, Wagnon, Jacy L., Hull, Jacob M., Frasier, Chad R., O’Malley, Heather A., Meisler, Miriam H., Isom, Lori L.
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2017
Assuntos:
Biological Sciences
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5338511/
https://ncbi.nlm.nih.gov/pubmed/28193882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1616821114
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