Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Pierre-Yves MaillardSarah BaerÉlise SchaeferBeatrice DesnousNathalie VilleneuveAnne LépineAlexandre FabreCaroline LacosteSalima El ChehadehAmélie PitonLouise Frances PorterCaroline PerriardMarie-Thérèse Abi WardéMarie-Aude SpitzVincent LaugelGaëtan LescaAudrey PutouxDorothee M VilleCyril MignotDelphine HéronRima NabboutGiulia BarciaMarlène RioAgathe RoubertiePierre MeyerVéronique Paquis-FlucklingerOlivier PatatJérémie LefrancMarion Gerardnull nullJulietta de BellescizeLaurent VillardAnne De Saint MartinMathieu MilhPublished in: Epilepsia (2022)
-receptor subunit variants are associated with highly variable phenotypes despite their molecular and physiological proximity. None of the genes described here was associated with a specific phenotype. On the other hand, it appears that the location of the variant on the protein may be a marker of severity. Variant location may have important weight in the development of targeted therapeutics.