• Prevalence is unknown.
• X-linked recessive (XLR) inheritance: females can be healthy carriers and males can be affected.
• Mainly developmental delay (language and psychomotor development) and/or autism spectrum disorder (ASD).
• Often seizures: clonic, tonic, generalized tonic-clonic and/or atypical absences, which can become drug-resistant. EEG can show epileptiform activities (spike and/or spike-wave complexes).
• Brain MRI is usually normal.
