DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between DYNC1H1 variants and epilepsy. Herein, we report a case of drug-resistant focal epilepsy associa...

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Detalles Bibliográficos
Autores principales: Chung, Chi-Ting, Lee, Ni-Chung, Fan, Sung-Pin, Hung, Miao-Zi, Lin, Yen-Heng, Chen, Chih-Hao, Jao, Tun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829698/
https://www.ncbi.nlm.nih.gov/pubmed/36636459
http://dx.doi.org/10.1016/j.ebr.2022.100580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829698/
https://www.ncbi.nlm.nih.gov/pubmed/36636459
http://dx.doi.org/10.1016/j.ebr.2022.100580

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