Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.
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DOI: 10.1111/epi.70045
Abstract: OBJECTIVE Variants in GABRG2, encoding the γ2 subunit of the γ-aminobutyric acid type A receptor, are linked to epilepsy phenotypes of varying severity, with gain-of-function (GoF) variants associated with the more severe phenotypes than loss-of-function… read more here.
Keywords: gabrg2 ala106thr; variant; recurrent gabrg2; language ... See more keywords