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Single-channel Properties of Human Na(V)1.1 and Mechanism of Channel Dysfunction in SCN1A-associated Epilepsy

Mutations in genes encoding neuronal voltage-gated sodium channel subunits have been linked to inherited forms of epilepsy. The majority of mutations (>100) associated with generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI) occur in SCN1A encod...

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Autors principals: Vanoye, Carlos G., Lossin, Christoph, Rhodes, Thomas H., George, Alfred L.
Format: Artigo
Idioma:Inglês
Publicat: The Rockefeller University Press 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2151481/
https://ncbi.nlm.nih.gov/pubmed/16380441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1085/jgp.200509373
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