All children were born after normal pregnancies and deliveries, and their head at birth and during follow-up was within the normal range. Seizures started in the first weeks or months of life (around 10 weeks on average), often as focal seizures that could last longer than usual or occur in clusters. After this early severe period, seizures became less frequent, and one child had no seizures at the last follow-up. Brain activity recordings (EEG) were generally normal for age, with seizure-related activity seen in only one child. All children had developmental delay ranging from mild to moderate, with speech being more affected than movement skills. Autism spectrum disorder was diagnosed in three children, and behavior problems were also seen. No other organs were affected. Brain scans were normal in three children, while one showed mild shrinkage of brain tissue.
GAD2