H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus

PURPOSE: The aim of this was to discover disease‐causing gene mutations linked to genetic epilepsy with febrile seizures plus (GEFS+) in a family in the Southern Chinese Han population. Of a three‐generation pedigree of 18 members in this family, 4 were affected with GEFS+. METHOD: Blood samples of...

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Detalles Bibliográficos
Autores principales: Ding, Jian, Miao, Qin‐Fei, Zhang, Jing‐Wen, Guo, Yu‐Xiong, Zhang, Yu‐Xin, Zhai, Qiong‐Xiang, Chen, Zhi‐Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749510/
https://www.ncbi.nlm.nih.gov/pubmed/32990398
http://dx.doi.org/10.1002/brb3.1859

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749510/
https://www.ncbi.nlm.nih.gov/pubmed/32990398
http://dx.doi.org/10.1002/brb3.1859

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