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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Detalles Bibliográficos
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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999346/
https://www.ncbi.nlm.nih.gov/pubmed/29904720
http://dx.doi.org/10.1212/NXG.0000000000000245

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999346/
https://www.ncbi.nlm.nih.gov/pubmed/29904720
http://dx.doi.org/10.1212/NXG.0000000000000245

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