Angelman syndrome
Disease
Virus hit 'hard and fast:' Dead girl's parents...that it can hit so hard and fast," Leanne said. Sarah had Angelman syndrome, a genetic disorder causing mental and physical disabilities and often misdiagnosed as cerebral palsy or autism. She suffered from seizures, eating and sleep... In this article: H1N1, Seizure, Phobia, Cerebral palsy, Autism, Angelman syndrome, and Genetic disorder |
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PR Newswire: Health / Biotech | November 10, 2009
Celebrities Colin Farrell, Gary Mule Deer and Regie Hamm to Appear at Chicago Charity Event
...cerebral palsy and/or mental retardation. "We are excited about the progress we've made in helping to find a cure for Angelman Syndrome," said Paula Evans, founder and chairperson of FAST. "Because this disorder is so often misdiagnosed,...
In this article: Colin Farrell, Hyatt Regency Chicago, Regie Hamm, Morgan Stanley Smith Barney, Mental retardation, LexisNexis, Cerebral palsy, and Autism
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Wikipedia | October 15, 2009
MECP2
In addition, several people with features of both Rett syndrome and Angelman syndrome (a condition characterized by mental retardation, problems with movement, and inappropriate laughter and excitability) have mutations in the MECP2 gene.
In this article: Mecp2, Rett syndrome, Mental retardation, MBD2, MBD1, Norepinephrine, Creb1, Autism, and Autoimmune disease
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International Herald Tribune | November 22, 2008
Pioneering theory on parental genes' influence on mental disorders
...genetic region on chromosome 15. If the father's genes dominate in this location, the child develops Angelman syndrome; if the mother's do, the result is Prader-Willi syndrome, as Haig and others have noted. The former is tied to autism, and...
In this article: Mental disorder, Autism, Prader-Willi syndrome, IGF2, Simon Fraser University, and David Haig
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PR Newswire: Health / Biotech | September 29, 2009
Chicago Charity Gala Makes an 'Evening With the Stars' a Night of Star Power
...Mag-Drive. The proceeds raised throughout the night will be donated for research dedicated to finding a cure for Angelman Syndrome, a disorder that is often misdiagnosed as autism, cerebral palsy and/or mental retardation. "We are...
In this article: Hyatt Regency Chicago, Colin Farrell, Mental retardation, LexisNexis, Cerebral palsy, Autism, Regie Hamm, Time of My Life, and David Cook
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www.scientificamerican.com
A Patchwork Mind: How Your Parents' Genes Shape Your Brain
Imprinting errors are responsible for rare disorders such as Angelman and Prader-Willi syndromes, and some scientists are beginning to think imprinting might be implicated in more common illnesses such as autism and schizophrenia. Even...
In this article: Autism, Prader-Willi syndrome, Gregor Mendel, Mental retardation, University of Cambridge, Angelman, Alzheimer's disease, Obesity, Wistar Institute, and University of California, Davis
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Science Blog - | May 10, 2009
UNC-Duke study: Impaired brain plasticity linked to Angelman syndrome learning deficits
...a latent ability to express plasticity. We are now collaborating to find a way to tap into this latent plasticity, as this could offer a treatment, or even a cure, for Angelman syndrome," said Philpot. Philpot added, "This same experimental...
In this article: UNC, Autism, Mental retardation, Ube3a, Cerebral palsy, Neurodevelopmental disorders, University of North Carolina, and Duke University
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The Herald | January 29, 2009
Writer backs sleep charity's campaign
...some kind of sleeping disorder. Children with additional support needs - such as autism, cystic fibrosis, attention deficit disorders, Angelman syndrome or Down's syndrome - are far more likely to have serious sleep issues than other...
In this article: Autism, Ian Rankin, Glasgow, and Down's syndrome
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Wikipedia | November 03, 2009
St. Christopher's School (Bristol)
Many of the pupils have language and communication disorders, some have physical disabilities and some display challenging behaviour. Some of the additional conditions are autism spectrum disorder, epilepsy, Rett Syndrome and Angelman Syndrome.
In this article: Bristol, St. Christopher's School, Autism, Rett syndrome, and Epilepsy
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Science Blog - | May 10, 2009
Preclinical work shows how one gene causes severe mental retardation
...syndrome patients." The authors found that brains cells in Angelman syndrome mice lacked the ability to appropriately strengthen or weaken in the cortex, an area of the brain important for cognitive abilities. Angelman syndrome is one...
In this article: Mental retardation, University of North Carolina, Autism, Nature Neuroscience, Neurodevelopmental disorders, Ube3a, and Durham
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More on Angelman syndrome
Description from Wikipedia:
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanour. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The sister syndrome, Prader-Willi syndrome, is caused by a similar loss of paternally-inherited genes.
AS is named after a British pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer used, though it remains useful as a diagnostic heuristic.
People with AS are sometimes known as "Angels", both because of the syndrome's name and because of their youthful, happy appearance.
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