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

ABSTRACT:

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 pres

SUBMITTER: Pavone P 

PROVIDER: S-EPMC7667356 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature