Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants
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Background and objectives: Variants in the GABRG2 gene encoding the γ2 subunit of the γ-aminobutyric acid type A (GABAA) receptor are associated with a spectrum of epilepsy phenotypes. These range from simple febrile seizures t... ...
