The genetic and phenotypic spectrum of GABRB1-related disorders.

doi:10.1093/brain/awaf213

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Article

The genetic and phenotypic spectrum of GABRB1-related disorders.

Brain : a journal of neurology - 7 Feb 2026

Millevert Charissa, Kan Anthony Sze Hon, Hanke Moritz, Koko Mahmoud, Omidvar Maryam Erfanian, Hedrich Ulrike B S, Wuttke Thomas V, Barišić Nina, Lagae Lieven, Aledo-Serrano Ángel, Niehoff Eva-Maria, Platzer Konrad, Zacher Pia, Polster Tilman, Dilena Robertino, Monfrini Edoardo, Geneviève David, Roubertie Agathe, Bruel Ange-Line, Mau-Them Frederic Tran, Dasouki Majed, Cohen Stacey, Helbig Ingo, Harrison Alicia G, Ellis Collin, Dubbs Holly A, Marsh Eric D, Lebon Sébastien, He Na, Meng Heng, Chebib Mary, Møller Rikke S, Marini Carla, Ahring Philip K, Lerche Holger, Weckhuysen Sarah

Abstract excerpt

Pathogenic variants in GABAA receptor subunit genes (GABR*) are important contributors to rare and common genetic epilepsies. Here, we present a comprehensive analysis of variants in GABRB1, which encodes the GABAA receptor β1 subunit, by revealing their functional implications, establishing genotype-phenotype correlations and evaluating treatment response. Clinical information on individuals carrying a GABRB1...

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Identifiers

PMID: 40472023
DOI: 10.1093/brain/awaf213

Genes

GABRB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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