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Functional Characterization of a CRH Missense Mutation Identified in an ADNFLE Family

Nocturnal frontal lobe epilepsy has been historically considered a channelopathy caused by mutations in subunits of the neuronal nicotinic acetylcholine receptor or in a recently reported potassium channel. However, these mutations account for only a minority of patients, and the existence of at lea...

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Detalles Bibliográficos
Autores principales: Sansoni, Veronica, Forcella, Matilde, Mozzi, Alessandra, Fusi, Paola, Ambrosini, Roberto, Ferini-Strambi, Luigi, Combi, Romina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3623861/
https://www.ncbi.nlm.nih.gov/pubmed/23593457
http://dx.doi.org/10.1371/journal.pone.0061306

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