Clinical Characteristics
Main Clinical Features
- Neurological Development:
- Moderate-to-profound developmental delay
- Severe intellectual disability (ID)
- Absent or severely limited speech
- Hypotonia during infancy progressing to spasticity
Neuroimaging Findings (Characteristic)
- Hyperkinetic/dyskinetic movement disorders (near-universal)
- Motor stereotypies (repetitive, purposeless movements)
Diagnosis
Suggestive Clinical and Imaging Findings
- Variety of seizure types: infantile spasms, focal seizures, Lennox-Gastaut syndrome
- EEG findings often nonspecific or normal
Confirmatory Testing
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