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...

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Detalles Bibliográficos
Autores principales: Olivotto, Sara, Freddi, Anna, Lavatelli, Rossella, Basso, Eleonora, Leidi, Alessia, Castellotti, Barbara, Spaccini, Luigina, Bova, Stefania Maria, Veggiotti, Pierangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
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

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