GABRA1-related disorders: from genetic to functional pathways.
Elisa MustoVivian W Y LiaoKatrine M JohannesenChristina D FengerDamien LedererKavitha KothurKatrina FiskBruce BennettsPascal VrielynckDelphine DelabyBerten CeulemansSarah WeckhuysenPeter SparberArjan BoumanSimone Ardern-HolmesChristopher TroedsonDomenica I BattagliaHimanshu GoelTimothy FeymaSomayeh BakhtiariLinda TjoaMartin BoxillNina DeminaOlga ShchaginaElena DadaliMichael KruerGaetano CantalupoIlaria ContaldoTilman PolsterBertrand IsidorStefania M BovaWalid FazeliLeen WoutersMaria J MirandaFrancesca DarraElisa PedeDiana Le DucRami Abou JamraSébastien KüryJacopo ProiettiNiamh McSweeneyElly BrokampPeter Ian AndrewsMarie Gouray GarciaMary ChebibRikke Steensjerre MollerPhilip K AhringElena GardellaPublished in: Annals of neurology (2023)
Our data expand the genetic and phenotypic spectrum of GABRA1-epilepsies and permit to delineate specific sub-phenotypes for LoF and GoF variants, though the heterogeneity of phenotypes and variants. Generally, variants in the transmembrane helices cause more severe phenotypes, in particular GoF variants. These findings establish the basis for a better understanding of the patho-mechanism and precision medicine approach in GABRA1-related disorders. Further studies in larger populations are needed to provide a conclusive genotype-phenotype correlation. This article is protected by copyright. All rights reserved.