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A novel GABRB3 variant in Dravet syndrome: Case report and literature review
BACKGROUND: Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE), and others. METHODS AND RESULTS: We herewith report on a girl...
| 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/PMC7667356/ https://www.ncbi.nlm.nih.gov/pubmed/32945607 http://dx.doi.org/10.1002/mgg3.1461 |