About Angelman Syndrome
Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally inherited UBE3A gene on chromosome 15q11-q13. The paternal copy of UBE3A is normally silenced in neurons by imprinting, so loss of the maternal copy results in absence of UBE3A protein in the brain. Characteristic features include severe intellectual disability, absence of speech, happy demeanor with frequent laughter, movement disorder, seizures, and microcephaly.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Angelman Syndrome trials.
Molecular subtype (deletion, UPD, imprinting defect, UBE3A mutation) critically determines trial eligibility — antisense oligonucleotide (ASO) trials typically target non-deletion cases
Chromosome 15 methylation analysis and FISH/microarray results are required documentation for most trials
Vineland Adaptive Behavior Scales and EEG are standard baseline measures for trial enrollment
Seizure status and current antiseizure medications must be stable for a defined period before enrollment
Patient Resources
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