Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

OBJECTIVE: The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy, previously mapped to the 6q16–q22 region. METHODS: We used exome sequencing and analyzed candidate variants in the 6q1...

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Detalhes bibliográficos
Main Authors: Baulac, Stéphanie, Lenk, Guy M., Dufresnois, Béatrice, Ouled Amar Bencheikh, Bouchra, Couarch, Philippe, Renard, Julie, Larson, Peter A., Ferguson, Cole J., Noé, Eric, Poirier, Karine, Hubans, Christine, Ferreira, Stéphanie, Guerrini, Renzo, Ouazzani, Reda, El Hachimi, Khalid Hamid, Meisler, Miriam H., Leguern, Eric
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3962989/
https://ncbi.nlm.nih.gov/pubmed/24598713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000241
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