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:

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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A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.
 

Author(s): Jing Yang, Yongchen Yang, Yi Huang, Yan Hu, Xi Chen, Hengjuan Sun, Zhibao Lv, Qian Cheng, Liming Bao

Journal:

 

The proximal chromosome 15q is prone to unequal crossover, leading to rearrangements. Although 15q11q13 duplications are common in patients with developmental delays and mental impairment, 15q aneusomies resulting in greater or equal to 4 copies of 15q11q13 are rare and no pentasomy ...

Last Updated: 18 Mar 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 9 free, full-text review articles on human participants. First 3 results:

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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Epilepsy in patients with Angelman syndrome.
 

Author(s): Agata Fiumara, Annarita PittalĂ , Mariadonatella Cocuzza, Giovanni Sorge

Journal:

 

Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are ...

Last Updated: 6 May 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
 

Status: Recruiting

Condition Summary: Angelman Syndrome

 

Last Updated: 5 Feb 2014

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Characterization of Angelman Syndrome
 

Status: Recruiting

Condition Summary: Angelman Syndrome

 

Last Updated: 1 Jul 2013

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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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