P481: Reclassification of a cerebral palsy diagnosis: Adult presentation of Angelman syndrome due to paternal uniparental disomy
Abstract
Seizures were managed with levetiracetam, and supportive care addressed gait instability and sleep disturbance. The family was specifically concerned about the patient’s sleep disturbance and felt the patient was lethargic secondary to over medication; a finding that is common in AS patients as providers try to suppress benign movements easily interpreted as epileptic.
Fields of Study & Subjects
Genetic Syndromes and Imprinting
Epilepsy research and treatment
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104362–104362
- Publication date
- 1 January 2026
- Language
- EN