Salta al contenuto principale
Passa alla visualizzazione normale.


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

  • Autori: Pavone P.; Pappalardo X.G.; Marino S.D.; Sciuto L.; Corsello G.; Ruggieri M.; Parano E.; Piccione M.; Falsaperla R.
  • Anno di pubblicazione: 2020
  • Tipologia: Articolo in rivista
  • OA Link:


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 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). Conclusion: 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.