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An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus
Genetic epilepsy with febrile seizures plus (GEFSP) is a familial epileptic syndrome that is genetically heterogeneous and inherited in an autosomal dominant form in most cases. To date, at least seven genes have been reported to associate with GEFSP. This study aimed to identify the disease-causing...
Autores principales: | Li, Ling, Yuan, Lamei, Zheng, Wen, Yang, Yan, Deng, Xiong, Song, Zhi, Deng, Hao |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412811/ https://www.ncbi.nlm.nih.gov/pubmed/37576022 http://dx.doi.org/10.3389/fneur.2023.1229569 |
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