A novel GABRB3 variant in Dravet syndrome: Case report and literature review

ConclusionA likely relationship between the novelGABRB3 gene variant and the clinical manifestations presented by the girl is proposed. Previously, one case of DS and two of DS ‐like linked withGABRB3 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 toGABRB3 mutations is reported.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1461?af=R

Source: Molecular Genetics & Genomic Medicine - September 17, 2020 Category: Genetics & Stem Cells Authors: Piero Pavone, Xena Giada Pappalardo, Simona D. Marino, Laura Sciuto, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Maria Piccione, Raffaele Falsaperla Tags: CLINICAL REPORT Source Type: research