Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis

OBJECTIVE: We investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). METHODS: Whole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Gen...

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Publicado en:Neurol Genet
Autores principales: Wong, John K.L., Gui, Hongsheng, Kwok, Maxwell, Ng, Ping Wing, Lui, Colin H.T., Baum, Larry, Sham, Pak Chung, Kwan, Patrick, Cherny, Stacey S.
Formato: Artigo
Lenguaje:Inglês
Publicado: Wolters Kluwer 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5999346/
https://ncbi.nlm.nih.gov/pubmed/29904720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000245
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