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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...
Autores principales: | Sansoni, Veronica, Forcella, Matilde, Mozzi, Alessandra, Fusi, Paola, Ambrosini, Roberto, Ferini-Strambi, Luigi, Combi, Romina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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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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