====== Angelman Syndrome ======
====Main Features====
  * Severe developmental delay or intellectual disability
  * Severe speech impairment
  * Gait ataxia and/or tremulousness of the limbs
  * Apparent happy demeanor that includes frequent laughing, smiling, and excitability 
====Eye Findings====
  * Strabismus 
  * Refractive error
  * Deep-set eyes
====Other Findings====
  * Seizures 
  * EEG shows large amplitude slow-spike waves
====Etiology====
  * Deletion or defect in 15q11.2-q13 (80%)
    * Genes in this area control imprinting of other genes and several genes are imprinted in this area. 
    * Imprinting leads to methylation or inactivation of certain genes so that material and paternal genes don't both function simultaneously. 
  * UBE3A mutation (11%)
    * Codes for ubiquitin ligase protein
    * Ubiquitination is a process of labeling proteins that targets them for degredation 
====Reference====
  * [[https://www.ncbi.nlm.nih.gov/books/NBK1144/|Gene Reviews]]
  * [[https://rarediseases.org/rare-diseases/angelman-syndrome/|Rare Disease Database Entry]]

{{tag>syndrome}}