Angelman syndrome
Evidence-based neurology checklist on angelman syndrome: Genetics This is caused by deletions in chromosome 15q11-q13 in most cases The deletion interferes with UBE3A expression Dysmorphic features Behavioural features Movement disorders Speech impairments Epilepsy types Other neurological…
Genetics
- This is caused by deletions in chromosome 15q11-q13 in most cases
- The deletion interferes with UBE3A expression
Dysmorphic features
Behavioural features
Movement disorders
Speech impairments
Epilepsy types
Other neurological features
Systemic features
Electroencephalogram (EEG): features
References
- Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 36:36.
- Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med 2010; 12:385-395.
- Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40:87–95.
- Pollack SF, Grocott OR, Parkin KA, Larson AM, Thibert RL. Myoclonus in Angelman syndrome. Epilepsy Behav 2018; 82:170-174.
Related checklists
- Epilepsy and chromosomal disorders: classification
- Alfi syndrome
- Miller Dieker syndrome
- Patau syndrome
- Williams Beuren syndrome (WBS)
- Wolf-Hirschhorn syndrome
- 1p36 monosomy
- 1q deletion syndrome
- 2p deletion syndrome
- 2q deletion syndrome
- 3p deletion syndrome
- 6q terminal deletion syndrome
- 15 inversion duplication syndrome
- 15q13.3 microdeletion syndrome
- 18q deletion syndrome
- Fragile X syndrome
- Ring 14 chromosome
- Ring 20 chromosome
- Trisomy 12p
