Search Results for "Angelman Syndrome"
Original Source: 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 predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other ones involving severe developmental handicap. In this review the core neurological features of the syndrome are discussed with a focus on those behaviors that make Angelman syndrome a pro...
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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...
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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...
