All reported patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. All reported patients had neonatal developmental and epileptic encephalopathies (DEE) with seizure onset in the first months of life. In addition to neurological features, many patients presented a cleft palate, joint contractures, pes equinovarus and scoliosis. Other features include omphalocele and facial dysmorphic and cleft palate. At the time of report, several affected individuals had died.
GAD1