This study establishes that early symptoms such as dysphagia, neurodevelopmental concerns, seizures, and hyperkinetic movement disorders are consistent and early clinical biomarkers of the GABRG2 p.(Ala106Thr) GoF variant.
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #GABAAreceptor

Transmembrane domain variants were more frequently associated with the most severe phenotype (EIDEE).
doi.org/10.1111/epi....

#epilepsy #epilepsia #ILAE #DEE #EEGbiomarker #electroclinicalphenotypes #GABA #GABAAreceptor #GABRA2