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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
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Materias: | |
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 |
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