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...

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Detalles Bibliográficos
Autores principales: Pavone, Piero, Pappalardo, Xena Giada, Marino, Simona D., Sciuto, Laura, Corsello, Giovanni, Ruggieri, Martino, Parano, Enrico, Piccione, Maria, Falsaperla, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
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

Internet

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

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