Angelman Syndrome Foundation Company Profile
Since 1996, the Angelman Syndrome Foundation has funded 59 research grants totaling more than $3.5 million. The Angelman Syndrome Foundation has awarded a majority of these funds ($3.3 million) beginning in 2005. For more information on the Foundation, please visit www.angelman.org.
News Articles
Massachusetts General Hospital Launches Angelman Syndrome Clinic
The Angelman Syndrome Clinic, one of only two in the country, will work to reduce the frequency and severity of Angelman syndrome symptoms, particularly seizures, and to develop dietary regimens for i...
L-DOPA Therapy For Angelman Syndrome May Have Both Benefits And Unanticipated Effects
Last year a clinical trial of L-DOPA - a mainstay of Parkinson's disease therapy -- was launched for Angelman syndrome, a rare intellectual disorder that shares similar motor symptoms such as tremors...
Brain cell activity imbalance may account for seizure susceptibility in Angelman syndrome
(University of North Carolina Health Care) New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 perc...
Advance In Mouse Model Of Angelman Syndrome
In the journal PLoS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In te...
Mutation of HERC2 Causes Angelman-Like Features
The authors investigate a unique inherited neurodevelopmental condition with some phenotypic similarities to Angelman syndrome, shown to be due to a mutation in the HERC2 gene. Journal of Medical Ge...
Brian Rattner and Other Parents Raising Awareness About Angelman Syndrome
Brian Rattner and other parents of special needs children recently announced plans to raise awareness about Angelman Syndrome, a rare neurological disorder. New York, NY (PRWEB) July 12, 2012 Brian R...
Seizure Susceptibility In Angelman Syndrome May Be Due To Brain Cell Activity Imbalance
New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS),...
Study demonstrates how CN2097 works to restore neural functions impaired by Angelman syndrome
In a new study in mice, a scientific collaboration centered at Brown University lays out in unprecedented detail a neurological signaling breakdown in Angelman syndrome, a disorder that affects thousa...
Drugs and Medications
None
PubMed Articles
The behavioral phenotype of the Angelman syndrome.
The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors. Those with the syndrome have a predisp...
Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress.
Background Sleep concerns are common in children with Angelman syndrome, with 20-80% of individuals having a decreased sleep need and/or abnormal sleep-wake cycles. The impact of these sleep behavi...
Altered GABA(A) Receptor Subunit Expression and Pharmacology in Human Angelman Syndrome Cortex.
The neurodevelopmental disorder Angelman syndrome is most frequently caused by deletion of the maternally-derived chromosome 15q11-q13 region, which includes not only the causative UBE3A gene, but als...
In order to relate brain structural abnormalities to clinical features of Angelman Syndrome (AS), we determined the locations of abnormal regional white matter architecture in AS children using a sens...
Clinical Trials
Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
This study is designed to determine the highest dose of levodopa/carbidopa that can be tolerated without any serious side effects by children with Angelman syndrome. It has been hypothesi...
Characterization of Angelman Syndrome
Angelman Syndrome (AS) is a developmental disorder that is caused by a deficiency of a maternally transmitted gene. It is inherited at birth, and affects movement, speech, and social demea...
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating...
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusua...
Genomic Imprinting and Assisted Reproductive Technologies
Genomic imprinting, referring to an epigenetic marking resulting in monoallelic gene expression, plays a critical role in development. Recently, various imprinting diseases were reported i...
Companies
Since 1996, the Angelman Syndrome Foundation has funded 59 research grants totaling more than $3.5 million. The Angelman Syndrome Foundation has awarded a majority of these funds ($3.3 million) beginn...
Foundation for Angelman Syndrome Therapeutics (FAST)
Angelman Syndrome (AS) was first described by Dr. Harry Angelman in 1965. Common symptoms include developmental delay and intellectual disabilities, happy demeanor, movement and balance disorder, seve...
The Angelman Syndrome Foundation
Founded in 1983, the Sjogren's Syndrome Foundation (SSF) provides patients with practical information and coping strategies that minimize the effects of Sjogren's syndrome. In addition, the Foundation...
Research Down Syndrome (RDS) is a non-profit foundation which funds research at leading institutions directed towards identifying safe and effective biomedical therapies to treat the intellectual diff...
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