Angelman syndrome

Common Name(s)

Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that causes developmental delay, intellectual disability, speech problems, seizures (epilepsy), and problems with movement and balance (ataxia). Individuals with AS have happy and excitable personalities, are frequently smiling and laughing, and usually flap their hands when they are excited. Most children with AS have difficulty sleeping. Other features of AS include an abnormal curve to the spine (scoliosis), a small head size (microcephaly), and light hair, skin and eyes. Certain facial features can be noticed in adults with AS, including deep-set eyes, widely spaced teeth, and a wide smile. People with AS tend to live a normal lifespan.

AS is caused by changes to the UBE3A gene, located on chromosome 15. People have two copies of the UBE3A gene, one they inherit from their mother and one from their father. The mother’s copy is normally turned on in the brain while the father’s copy is turned off. If a child has a change that causes the mother’s copy to be turned off, they will have no working copies and will then have AS. Most cases of AS are due to a child missing their mother’s copy of UBE3A (deletion). In some cases, the child has a change (mutation) in the mother’s copy of UBE3A; and in others, a child inherits both copies of UBE3A from their father and none from their mother (uniparental disomy).

Symptoms of AS are usually not present until 6 months of age. Trouble with crawling and talking are usually the first signs of developmental delay. Seizures appear around age 2. A diagnosis of AS is normally confirmed with genetic testing. There is not a cure for AS, but therapies are available to help a child reach their developmental potential. There are also medications to help control seizures. If your child has been diagnosed with AS, talk to their doctor about the most current treatment options. Support groups can connect you with other families affected by AS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Angelman syndrome" for support, advocacy or research.

Angelman Syndrome Foundation

The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman Syndrome through education, information, support, advocacy and research.

Last Updated: 9 Nov 2012

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Angelman syndrome" for support, advocacy or research.

Angelman Syndrome Foundation

The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman Syndrome through education, information, support, advocacy and research.

http://www.angelman.org

Last Updated: 9 Nov 2012

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Angelman syndrome" returned 124 free, full-text research articles on human participants. First 3 results:

Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype.
 

Author(s): K Wang, Y T Li, M Hou

Journal:

 

Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental ...

Last Updated: 21 Jun 2016

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Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report.
 

Author(s): Magda Lourenço Fernandes, Maria do Carmo Santos, Renato Santiago Gomez

Journal: Braz J Anesthesiol. ;66(2):212-4.

 

Angelman syndrome is characterized by severe mental retardation and speech and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor. Patients with Angelman syndrome need to be sedated during an electroencephalogram ordered for diagnostic purposes ...

Last Updated: 8 Mar 2016

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Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
 

Author(s): Kaihui Zhang, Shu Liu, Bing Feng, Yali Yang, Haiyan Zhang, Rui Dong, Yi Liu, Zhongtao Gai

Journal:

 

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involved in the pathogenesis: microdeletions, ...

Last Updated: 4 Feb 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Angelman syndrome" returned 13 free, full-text review articles on human participants. First 3 results:

Potential therapeutic approaches for Angelman syndrome.
 

Author(s): Xiaoning Bi, Jiandong Sun, Angela X Ji, Michel Baudry

Journal: Expert Opin. Ther. Targets. 2016 ;20(5):601-13.

 

Angelman syndrome (AS) is a neurodevelopmental disorder caused by deficiency of maternally inherited UBE3A, an ubiquitin E3 ligase. Despite recent progress in understanding the mechanism underlying UBE3A imprinting, there is no effective treatment. Further investigation of the roles ...

Last Updated: 7 Apr 2016

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Angelman Syndrome.
 

Author(s): Seth S Margolis, Gabrielle L Sell, Mark A Zbinden, Lynne M Bird

Journal: Neurotherapeutics. 2015 Jul;12(3):641-50.

 

In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, ...

Last Updated: 3 Jul 2015

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The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders.
 

Author(s): Barbara J Bailus, David J Segal

Journal:

 

Angelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding ...

Last Updated: 25 Jun 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Study in Adults With Angelman Syndrome
 

Status: Recruiting

Condition Summary: Angelman Syndrome

 

Last Updated: 23 Mar 2017

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Single Dose Pharmacokinetic (PK) Study
 

Status: Recruiting

Condition Summary: Angelman Syndrome; Fragile X Syndrome

 

Last Updated: 10 Apr 2017

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SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
 

Status: Recruiting

Condition Summary: 22q11 Deletion Syndrome; DiGeorge Syndrome; Trisomy 21; Trisomy 18; Trisomy 13; Monosomy X; Sex Chromosome Abnormalities; Cri-du-Chat Syndrome; Angelman Syndrome; Prader-Willi Syndrome; 1p36 Deletion Syndrome

 

Last Updated: 19 Apr 2016

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