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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2014
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Article
Online Zugang: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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