A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
Pavone PieroXena Giada PappalardoSimona D MarinoLaura SciutoGiovanni CorselloMartino RuggieriEnrico ParanoMaria PiccioneRaffaele FalsaperlaPublished in: Molecular genetics & genomic medicine (2020)
A likely relationship between the novel GABRB3 gene variant and the clinical manifestations presented by the girl is proposed. Previously, one case of DS and two of DS-like linked with GABRB3 mutations have been reported. To the best of our knowledge, this is the first report of DS associated with this novel variant. A literature review of clinical cases with various types of epileptic encephalopathies (EEs) related to GABRB3 mutations is reported.