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Yang, C. Angelman Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4733 (accessed on 26 September 2026).
Yang C. Angelman Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4733. Accessed September 26, 2026.
Yang, Catherine. "Angelman Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4733 (accessed September 26, 2026).
Yang, C. (2020, December 24). Angelman Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4733
Yang, Catherine. "Angelman Syndrome." Encyclopedia. Web. 24 December, 2020.
Angelman Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/angelman-syndrome

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

genetic conditions

References

  1. Buiting K. Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C SeminMed Genet. 2010 Aug 15;154C(3):365-76. doi: 10.1002/ajmg.c.30273. Review.
  2. Dagli AI, Mueller J, Williams CA. Angelman Syndrome. 1998 Sep 15 [updated 2017Dec 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1144/
  3. Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R,Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM,Peters SU. A neurodevelopmental survey of Angelman syndrome withgenotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep;31(7):592-601.doi: 10.1097/DBP.0b013e3181ee408e. Erratum in: J Dev Behav Pediatr. 2011Apr;32(3):267.
  4. Lalande M, Calciano MA. Molecular epigenetics of Angelman syndrome. Cell MolLife Sci. 2007 Apr;64(7-8):947-60. Review.
  5. Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A,Nicholls RD, Zori RT, Williams CA, Driscoll DJ. Distinct phenotypes distinguishthe molecular classes of Angelman syndrome. J Med Genet. 2001 Dec;38(12):834-45.
  6. Pelc K, Cheron G, Dan B. Behavior and neuropsychiatric manifestations inAngelman syndrome. Neuropsychiatr Dis Treat. 2008 Jun;4(3):577-84.
  7. Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A,Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS,Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Angelman syndrome:Mutations influence features in early childhood. Am J Med Genet A. 2011Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775.
  8. Van Buggenhout G, Fryns JP. Angelman syndrome (AS, MIM 105830). Eur J HumGenet. 2009 Nov;17(11):1367-73. doi: 10.1038/ejhg.2009.67.Review.
  9. Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA,Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006 Mar1;140(5):413-8.
  10. Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev. 2005Mar;27(2):88-94. Review.
  11. Williams CA. The behavioral phenotype of the Angelman syndrome. Am J Med GenetC Semin Med Genet. 2010 Nov 15;154C(4):432-7. doi: 10.1002/ajmg.c.30278. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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