| Myoclonic seizures | sudden jerks |
| Focal seizures | with or without generalization |
| Atypical absence seizures | staring spells |
| Cortical visual impairment (CVI) | severe visual dysfunction not explained by eye abnormalities — affects >70% |
| Hypotonia | generalized low muscle tone |
| Hand-wringing stereotypies | repetitive, rhythmic hand movements characteristic |
| Gastrointestinal dysfunction | feeding difficulties, constipation, GER |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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