A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci

Familial focal epilepsy with variable foci is an autosomal dominant disorder characterized by partial epilepsy with variable foci. In this study, we report a six-generation with segregation of the mutation present in four generations Chinese family presenting with focal epilepsy with variable foci....

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Auteurs principaux: Youzhi Li, Xu Zhao, Shanshan Wang, Ke Xu, Xin Zhao, Shanshan Huang, Suiqiang Zhu
Format: article
Langue:EN
Publié: Frontiers Media S.A. 2021
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Accès en ligne:https://doaj.org/article/567b048d43104f6ea99365744cb2a7d6
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