A. Schoonjans

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...

Early clinical prediction of neurodevelopmental outcome in KCNQ2-related disorders

These prediction models demonstrate the feasibility of early prognostication in KCNQ2-RD and support future prospective external validation and enable more accurate individualised counselling by integrating clinical and genetic information readily available at time of genetic diagnosis.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders