Angelman Syndrome

Common Name(s)

Angelman Syndrome

Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent.
 

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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CNS Foundation

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

Last Updated: 12 Oct 2013

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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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CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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

Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.
 

Author(s): Linyan Meng, Richard Erwin Person, Wei Huang, Ping Jun Zhu, Mauro Costa-Mattioli, Arthur L Beaudet

Journal: PLoS Genet.. 2013 ;9(12):e1004039.

 

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated ...

Last Updated: 3 Jan 2014

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The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.
 

Author(s): Kathryn H Condon, Jianghai Ho, Camenzind G Robinson, Cyril Hanus, Michael D Ehlers

Journal: J. Neurosci.. 2013 Feb;33(9):3799-814.

 

Angelman syndrome (AS) is a severe disorder of postnatal brain development caused by neuron-specific loss of the HECT (homologous to E6AP carboxy terminus) domain E3 ubiquitin ligase Ube3a/E6AP. The cellular role of Ube3a remains enigmatic despite recent descriptions of synaptic and ...

Last Updated: 28 Feb 2013

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Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.
 

Author(s): Sara Rodriguez-Jato, Jixiu Shan, Jyoti Khadake, Arnold D Heggestad, Xiaojie Ma, Karen A Johnstone, James L Resnick, Thomas P Yang

Journal: PLoS ONE. 2013 ;8(2):e52390.

 

The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least 8 imprinted genes regulated by a bipartite imprinting center (IC) associated with the SNRPN gene. One component of the IC, the PWS-IC, governs the paternal epigenotype and expression of paternal genes. The mechanisms ...

Last Updated: 7 Feb 2013

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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 10 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: 4 Nov 2014

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Last Updated: 20 Nov 2014

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Genomic Imprinting and Assisted Reproductive Technologies
 

Status: Recruiting

Condition Summary: Natural Pregnancy; Pregnancy, Ovarian

 

Last Updated: 4 Mar 2014

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