Posts by: Iqra Mumal

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EpiSign is a newly developed blood test that helps diagnose several diseases, including Angelman syndrome, based on specific genetic changes in cells. EpiSign was developed as a collaborative effort ... Read more

December 14, 2018December 14, 2018

Mothers of Children with Rare Genetic Syndromes Experience Stress Similar to Moms of Autistic Kids, Study Finds

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A significant proportion of mothers of children with rare genetic syndromes, such as Angelman syndrome, experience levels of stress similar to those reported by mothers of children with autism ... Read more

August 6, 2018August 6, 2018

High Levels of Specific Protein Lead to Motor, Cognitive Issues in Angelman Patients, Study Finds

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Abnormalities in a protein complex crucial for cell survival are likely caused by increased levels of the p18 protein and result in motor and cognitive issues in Angelman syndrome, ... Read more

July 26, 2018July 26, 2018

PTC to Acquire Agilis and Its Gene Therapy Program for Angelman Syndrome

News

PTC Therapeutics will acquire Agilis Biotherapeutics and its gene therapy program for Angelman syndrome. The transaction is expected to be completed in a few months. Agilis is a biopharma focused on developing ... Read more

July 9, 2018July 9, 2018

Loss of Gray Matter in Brain May Contribute to Motor Dysfunction in Angelman, Study Suggests

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Patients with Angelman syndrome have significant volume loss of the brain’s gray matter, possibly contributing to motor dysfunction, a study suggests. The study, “From Cortical and Subcortical Grey Matter ... Read more

June 25, 2018June 25, 2018

Dietary Supplementation with Ketone Esters Significantly Reduced Seizures in Mouse Study

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Dietary supplementation with ketone esters significantly decreased the frequency of seizures and improved behavior, learning, memory, and overall function in a recent mouse study of Angelman syndrome. The study, ... Read more

April 11, 2018April 11, 2018

Oral Diazepam Curbs Children with Angelman Syndrome’s Nonconvulsive Epilepsy, Study Shows

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Oral diazepam is an effective treatment for Angelman syndrome patients who have prolonged seizure activity without convulsions, a study shows. It is also safe, researchers said. The study, “Diazepam for outpatient ... Read more

March 9, 2018March 9, 2018

Children with Angelman Syndrome Experience Sleep Disturbance Associated with Poor Health

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Children with Angelman syndrome experience severe night waking and higher sleep-disordered breathing scores, which were associated with poor health compared to age-matched peers, a new study looking at sleep ... Read more

March 7, 2018March 7, 2018

New Visualization Tool Details Pathways Involved in Angelman Syndrome

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A new visualization tool, created by Dutch researchers, details the genetic pathways of deleted genes in Prader-Willi syndrome (PWS) and Angelman syndrome (AS), showing that some common symptoms are ... Read more

January 11, 2018

Genomic Imprinting of UBE3A in Neurons Does Not Reduce its Levels, Animal Study Shows

News

Imprinting of the UBE3A gene – a phenomenon linked to Angelman syndrome – did not evolve as a method to control the dosage of UBE3A in neurons, a new ... Read more

Posts by: Iqra Mumal

Iqra Mumal

EpiSign Blood Test Helps Make Accurate Diagnosis of Angelman, Other Diseases

Mothers of Children with Rare Genetic Syndromes Experience Stress Similar to Moms of Autistic Kids, Study Finds

High Levels of Specific Protein Lead to Motor, Cognitive Issues in Angelman Patients, Study Finds

PTC to Acquire Agilis and Its Gene Therapy Program for Angelman Syndrome

Loss of Gray Matter in Brain May Contribute to Motor Dysfunction in Angelman, Study Suggests

Dietary Supplementation with Ketone Esters Significantly Reduced Seizures in Mouse Study

Oral Diazepam Curbs Children with Angelman Syndrome’s Nonconvulsive Epilepsy, Study Shows

Children with Angelman Syndrome Experience Sleep Disturbance Associated with Poor Health

New Visualization Tool Details Pathways Involved in Angelman Syndrome

Genomic Imprinting of UBE3A in Neurons Does Not Reduce its Levels, Animal Study Shows

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