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Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9062212/ https://www.ncbi.nlm.nih.gov/pubmed/35520951 http://dx.doi.org/10.1016/j.ebr.2022.100544 |