Clinical Characteristics

Main symptoms:

Most children have delays in language and movement development, and some may be diagnosed with autism spectrum disorder (ASD).

Seizures are common, including different types like jerking (clonic), stiffening (tonic), full-body seizures (tonic-clonic), or brief staring spells (atypical absences). These seizures can be hard to control with medication. Brain activity tests (EEGs) may show unusual patterns.

Brain scans (MRI) usually look normal.