Identification of five novel SCN1A variants
BackgroundEpilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the severity of SCN1A disorder, ranging from the mild phe...
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| Главные авторы: | , , , , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Frontiers Media S.A.
2023-11-01
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| Серии: | Frontiers in Behavioral Neuroscience |
| Предметы: | |
| Online-ссылка: | https://www.frontiersin.org/articles/10.3389/fnbeh.2023.1272748/full |
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