{Reference Type}: Case Reports
{Title}: A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
{Author}: Pavone P;Pappalardo XG;Marino SD;Sciuto L;Corsello G;Ruggieri M;Parano E;Piccione M;Falsaperla R;
{Journal}: Mol Genet Genomic Med
{Volume}: 8
{Issue}: 11
{Year}: 11 2020
{Factor}: 2.473
{DOI}: 10.1002/mgg3.1461
{Abstract}: 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.<BR>We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next-generation sequencing (NGS)-based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter).<BR>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.