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 123 free, full-text research articles on human participants. First 3 results:

Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.
 

Author(s): Mark D Grier, Robert P Carson, Andre Hollis Lagrange

Journal:

 

Angelman Syndrome (AS) is a devastating neurodevelopmental disorder characterized by developmental delay, speech impairment, movement disorder, sleep disorders and refractory epilepsy. AS is caused by loss of the Ube3a protein encoded for by the imprinted Ube3a gene. Ube3a is expressed ...

Last Updated: 21 Apr 2015

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Reelin supplementation recovers synaptic plasticity and cognitive deficits in a mouse model for Angelman syndrome.
 

Author(s): Whitney R Hethorn, Stephanie L Ciarlone, Irina Filonova, Justin T Rogers, Daniela Aguirre, Raquel A Ramirez, Joseph C Grieco, Melinda M Peters, Danielle Gulick, Anne E Anderson, Jessica L Banko, April L Lussier, Edwin J Weeber

Journal: Eur. J. Neurosci.. 2015 May;41(10):1372-80.

 

The Reelin signaling pathway is implicated in processes controlling synaptic plasticity and hippocampus-dependent learning and memory. A single direct in vivo application of Reelin enhances long-term potentiation, increases dendritic spine density and improves associative and spatial ...

Last Updated: 20 May 2015

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Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome.
 

Author(s): V Tomaić, L Banks

Journal:

 

Angelman syndrome, a severe neurodevelopmental disease, occurs primarily due to genetic defects, which cause lack of expression or mutations in the wild-type E6AP/UBE3A protein. A proportion of the Angelman syndrome patients bear UBE3A point mutations, which do not interfere with ...

Last Updated: 30 Jan 2015

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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 11 free, full-text review articles on human participants. First 3 results:

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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Understanding the pathogenesis of Angelman syndrome through animal models.
 

Author(s): Nihar Ranjan Jana

Journal: Neural Plast.. 2012 ;2012():710943.

 

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, lack of speech, ataxia, susceptibility to seizures, and unique behavioral features such as easily provoked smiling and laughter and autistic features. The disease is primarily caused ...

Last Updated: 25 Jul 2012

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
 

Author(s): Angela M Mabb, Matthew C Judson, Mark J Zylka, Benjamin D Philpot

Journal: Trends Neurosci.. 2011 Jun;34(6):293-303.

 

Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe ...

Last Updated: 1 Jun 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Characterization of Angelman Syndrome
 

Status: Recruiting

Condition Summary: Angelman Syndrome

 

Last Updated: 27 Sep 2015

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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: 15 Oct 2015

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Last Updated: 27 Dec 2015

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