"Angelman Syndrome" - Books

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Select item 14589841.

GeneReviews® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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Select item 46389962.

Pharmacological and non-pharmacological interventions for non-respiratory sleep disturbance in children with neurodisabilities: a systematic review.

Beresford B, McDaid C, Parker A, et al.

Southampton (UK): NIHR Journals Library; 2018 Oct. (Health Technology Assessment, No. 22.60.)

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Select item 44036683.

StatPearls [Internet].

Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

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Select item 40865004.

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder [Internet].

Sun F, Oristaglio J, Levy SE, et al.

Rockville (MD): Agency for Healthcare Research and Quality (US); 2015 Jun. (Technical Briefs, No. 23.)

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Select item 29807925.

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

Borgaonkar DS.

Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Select item 52637046.

Improving continence in children and young people with neurodisability: a systematic review and survey.

Eke H, Hunt H, Ball S, et al.

Southampton (UK): NIHR Journals Library; 2021 Nov. (Health Technology Assessment, No. 25.73.)

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Select item 43237747.

Mental Health Problems in People with Learning Disabilities: Prevention, Assessment and Management.

National Guideline Alliance (UK).

London: National Institute for Health and Care Excellence (NICE); 2016 Sep. (NICE Guideline, No. 54.)

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Select item 40916548.

Challenging Behaviour and Learning Disabilities: Prevention and Interventions for People with Learning Disabilities Whose Behaviour Challenges.

National Collaborating Centre for Mental Health (UK).

London: National Institute for Health and Care Excellence (NICE); 2015 May. (NICE Guideline, No. 11.)

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Select item 23871569.

Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition.

Noebels JL, Avoli M, Rogawski MA, et al., editors.

Bethesda (MD): National Center for Biotechnology Information (US); 2012.

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Select item 140517410.

The Epilepsies: Seizures, Syndromes and Management.

Panayiotopoulos CP.

Oxfordshire (UK): Bladon Medical Publishing; 2005.

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Select item 320857011.

Scientific and Medical Aspects of Human Reproductive Cloning.

National Academy of Sciences (US), National Academy of Engineering (US), Institute of Medicine (US) and National Research Council (US) Committee on Science, Engineering, and Public Policy.

Washington (DC): National Academies Press (US); 2002.

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Select item 438921212.

Mental health of adults in contact with the criminal justice system: Identification and management of mental health problems and integration of care for adults in contact with the criminal justice system.

National Guideline Alliance (UK).

London: National Institute for Health and Care Excellence (NICE); 2017 Mar. (NICE Guideline, No. 66.)

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Select item 193036213.

Genes and Disease [Internet].

National Center for Biotechnology Information (US).

Bethesda (MD): National Center for Biotechnology Information (US); 1998-.

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Select item 251951814.

Rare Diseases and Orphan Products: Accelerating Research and Development.

Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, editors.

Washington (DC): National Academies Press (US); 2010.

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Select item 141528015.

Madame Curie Bioscience Database [Internet].

Austin (TX): Landes Bioscience; 2000-2013.

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Select item 438470216.

In the Light of Evolution: Volume V: Cooperation and Conflict.

Strassman JE, Queller DC, Avise JC, et al., editors.

Washington (DC): National Academies Press (US); 2011.

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Select item 539225217.

Management of Infantile Epilepsies [Internet].

Treadwell JR, Wu M, Tsou AY.

Rockville (MD): Agency for Healthcare Research and Quality (US); 2022 Oct. (Comparative Effectiveness Review, No. 252.)

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Select item 441776818.

Screening for glucose intolerance and development of a lifestyle education programme for prevention of type 2 diabetes in a population with intellectual disabilities: the STOP Diabetes research project.

Dunkley AJ, Tyrer F, Spong R, et al.

Southampton (UK): NIHR Journals Library; 2017 May. (Programme Grants for Applied Research, No. 5.11.)

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Select item 437649819.

Cerebral palsy in under 25s: assessment and management.

National Guideline Alliance (UK).

London: National Institute for Health and Care Excellence (NICE); 2017 Jan. (NICE Guideline, No. 62.)

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Select item 340129420.

Endotext [Internet].

Feingold KR, Anawalt B, Blackman MR, et al., editors.

South Dartmouth (MA): MDText.com, Inc.; 2000-.

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Supplemental Content

Images search in Bookshelf

Figure 1.

Individuals depicted have a genetically confirmed diagnosis of Angelman syndrome. Happy expression and an unstable gait accompanied by uplifted arms are commonly observed. At times, the facial appearance can suggest the diagnosis, but usually facial features are not distinctive.

Angelman Syndrome.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 5.21

Inheritance patterns for Prader-Willi and Angelman syndrome. The region in the long arm of chromosome 15 contains the genes whose absence causes these syndromes. However, they are imprinted in reverse fashion. In Prader-Willi syndrome, the paternal genes are active, while in Angelman syndrome, the maternal genes are active.

Methylation Pattern and the Control of Transcription.

Gilbert SF. Developmental Biology. 6th edition. Sunderland (MA): Sinauer Associates; 2000.
Figure 3.

The pedigree illustrates imprinting inheritance in Angelman syndrome (AS). Inheritance of a deleterious UBE3A pathogenic variant from the male (top left, I-1) has no effect on the two children (II-2, II-4) who inherit his pathogenic variant because the mutated UBE3A has already been inactivated in his germ cells (i.e., by imprinting) and because each of these children also inherited a normally activated UBE3A from their mother (I-2). (Note: Only one active UBE3A allele is required for normal brain functioning.) If his carrier daughter (II-2) transmits the UBE3A pathogenic variant to the grandson and granddaughter (III-1, III-2), they both will have AS since each will have also inherited an inactivated UBE3A from their father; thus, neither child will express a UBE3A allele. The same explanation pertains for AS occurring in the great grand-niece (bottom right, IV-2).

Angelman Syndrome.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 2.

Schematic drawing of chromosome region 15q11.2-q13 indicating the breakpoint regions BP1-BP6. Low copy repeat elements are located within these breakpoint regions (see text for details). Approximately 90% of chromosome deletions resulting in Angelman syndrome initiate at BP1 or BP2 and terminate in region BP3 (class I and class II). Approximately 10% of deletions are larger, typically spanning from BP1 to BP5, rarely beyond BP5. Genes that are not imprinted and thus biparentally expressed are noted by the open circles. The two critical imprinting center (IC) elements, the AS-SRO and the PWS-SRO, are drawn as open boxes. The gene SNRUF-SNRPN, drawn as a shaded box, has some overlap with the PWS-SRO. The SNURF-SNRPN sense/UBE3A antisense transcript is labeled UBE3A-AS.

Angelman Syndrome.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.