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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |