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Review
. 2020 Nov;8(11):e1461.
doi: 10.1002/mgg3.1461. Epub 2020 Sep 18.

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

Piero Pavone  1 , Xena Giada Pappalardo  2   3 , Simona D Marino  4 , Laura Sciuto  1 , Giovanni Corsello  5 , Martino Ruggieri  1 , Enrico Parano  2 , Maria Piccione  5 , Raffaele Falsaperla  4
Affiliations
Review

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

Piero Pavone et al. Mol Genet Genomic Med. 2020 Nov.

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 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.

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Conflict of interest statement

The authors declare no financial or otherwise relevant conflict of interest related to this manuscript.

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