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Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity

OBJECTIVE: To determine the contribution of genetic etiologies in epilepsy with photosensitivity. METHODS: A total of 35 epileptic patients with genetic photosensitivity from January 2019 to May 2021 were analyzed. RESULTS: Pathogenic variants were identified in 35 patients, including SCN1A(7) CHD2(...

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Detalles Bibliográficos
Autores principales: Niu, Yue, Gong, Pan, Jiao, Xianru, Xu, Zhao, Zhang, Yuehua, Yang, Zhixian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9416002/
https://www.ncbi.nlm.nih.gov/pubmed/36034301
http://dx.doi.org/10.3389/fneur.2022.907228