Sep 2026
Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures.
PURPOSE GAD67 and GAD65, encoded by GAD1 and GAD2, respectively, are the two isoforms of glutamic acid decarboxylase (GAD), the enzyme responsible for γ-aminobutyric acid (GABA) synthesis. Pathogenic variants in GAD1 cause a severe developmental and epileptic encephalopathy, whereas GAD2 has not previously been implica...
Mathijs B. van der Lei, Matthias De Wachter, C. D'Incal et al.
· Genetics in Medicine · 0 citations