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Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family
Generalized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel α-subunit (NaV1.1), and GABRA1 gene, encoding the α1 subunit of the γ-aminobutyric acid type A (GABA(A)) recep...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer International Publishing
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7359139/ https://www.ncbi.nlm.nih.gov/pubmed/32062735 http://dx.doi.org/10.1007/s10072-020-04284-x |