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Article

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

Molecular genetics & genomic medicine - 1 Nov 2020

Pavone Piero, Pappalardo Xena Giada, Marino Simona D, Sciuto Laura, Corsello Giovanni, Ruggieri Martino, Parano Enrico, Piccione Maria, Falsaperla Raffaele

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32945607
DOI: 10.1002/mgg3.1461
PMCID: PMC7667356

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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