De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

BACKGROUND: Mutations of SCN8A encoding the neuronal voltage-gated sodium channel Na(V)1.6 are associated with early-infantile epileptic encephalopathy type 13 (EIEE13) and intellectual disability. Using clinical exome sequencing, we have detected three novel de novo SCN8A mutations in patients with...

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Detalles Bibliográficos
Publicado en:J Med Genet
Main Authors: Blanchard, Maxime G, Willemsen, Marjolein H, Walker, Jaclyn B, Dib-Hajj, Sulayman D, Waxman, Stephen G, Jongmans, Marjolijn CJ, Kleefstra, Tjitske, van de Warrenburg, Bart P, Praamstra, Peter, Nicolai, Joost, Yntema, Helger G, Bindels, René JM, Meisler, Miriam H, Kamsteeg, Erik-Jan
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2015
Assuntos:
Genotype-Phenotype Correlations
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4413743/
https://ncbi.nlm.nih.gov/pubmed/25725044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102813
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