A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant

Temporal lobe epilepsy (TLE), the most common form of medically refractory focal epilepsy in adults, often requires surgery to alleviate seizures. By using next-generation sequencing, we identified a PIK3R2 mutation (NM_005027.4: c.265C > T; NP_005018.2: p.Arg89Cys) in a family with mesial tempor...

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Detalles Bibliográficos
Autores principales: Wang, Yishu, Peng, Jing, Bai, Shuwei, Yu, Haojun, He, Hong, Fan, Chunxiang, Hao, Yong, Guan, Yangtai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141861/
https://www.ncbi.nlm.nih.gov/pubmed/34040629
http://dx.doi.org/10.3389/fgene.2021.596709

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