Angelman

Molecular Etiology

 * 15q11-13
 * 68% maternal deletion
 * <1% unbalanced chromosomal translocation


 * 7% UPD
 * 11% UBE3A
 * Imprinting Center Mutations
 * 10-20% microdeletions within imprinting center

Neurological

 * Seizures
 * Intellectual Disability
 * Ataxia
 * Inappropriate Laughter

Paternal UPD vs Deletion

 * Better Growth
 * Less Ataxia/Movement Abnormalities
 * Fewer Seizures
 * Better Development
 * Better Language Abilities