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Article

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

Annals of neurology - 1 Mar 2021

El Achkar Christelle M, Harrer Merle, Smith Lacey, Kelly McKenna, Iqbal Sumaiya, Maljevic Snezana, Niturad Cristina E, Vissers Lisenka E L M, Poduri Annapurna, Yang Edward, Lal Dennis, Lerche Holger, Møller Rikke S, Olson Heather E

Abstract excerpt

OBJECTIVE: We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the γ-aminobutyric acid type A (GABAA ) receptor subunit β2. METHODS: We recruited and systematically evaluated 25 individuals with variants in GABRB2, 17 of whom are newly described and 8 previously reported with additional clinical data. Functional analysis was...

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Identifiers

PMID: 33325057
DOI: 10.1002/ana.25985
PMCID: PMC9161810

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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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