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Article

De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects

10 Jan 2024

Abstract excerpt

Background The GABRA1 gene, encoding the GABRAR subunit α1, plays vital roles in inhibitory neurons. Previously, the GABRA1 gene has been identified to be associated with developmental and epileptic encephalopathy (DEE) and idiopathic generalized epilepsy (IGE). This study aims to explore the phenotypic spectrum of GABRA1 and molecular subregional effect analysis. Methods Trios-based whole-exome sequencing was...

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PMID: 38269327
DOI: 10.3389/fnmol.2023.1321090

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