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Article

GABRA1 ‐Related Disorders: From Genetic to Functional Pathways

22 Aug 2023

Abstract excerpt

OBJECTIVE: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyze the electroclinical features and the functional effects of GABRA1 variants to establish...

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PMID: 37606373
DOI: 10.1002/ana.26774

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