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Impaired Na(V)1.2 Function and Reduced Cell Surface Expression in Benign Familial Neonatal-Infantile Seizures

PURPOSE: Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel α-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS). Functional characterization of three BFNIS mutations was performed to identify defects in...

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Autori principali: Misra, Sunita N., Kahlig, Kristopher M., George, Alfred L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3647030/
https://ncbi.nlm.nih.gov/pubmed/18479388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1528-1167.2008.01619.x
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