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Nonfunctional Na(V)1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Mutations causing FHM type 3 have been identified in SCN1A, the gene encoding the Na(v)1.1 Na(+) channel, which is also a major target of epileptogenic mutations and is particularly important for the excitability of GABAergi...

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Detalhes bibliográficos
Main Authors: Cestèle, Sandrine, Schiavon, Emanuele, Rusconi, Raffaella, Franceschetti, Silvana, Mantegazza, Massimo
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3808640/
https://ncbi.nlm.nih.gov/pubmed/24101488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1309827110
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