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Loss of the maternal copy of the UBE3a gene in a specific set of nerve cells called GABAergic neurons is a key factor underlying Angelman syndrome, a mouse study suggests. The study, “GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility,” was published in the…

Ganaxolone reduced seizures, anxiety and improved motor deficits in a mouse model of Angelman syndrome, according to a study. That result supports clinical studies to investigate the compound as a possible treatment for this neurological disorder, researchers say..

Unpredictable responses to anesthesia drugs and difficulty to intubate should be taken into consideration before Angelman syndrome patients undergo surgery, according to a case study. In the case report, “Angelman syndrome and anaesthetic considerations,” published in the Indian Journal of Anaesthesia, researchers presented the case of…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Loss of the protein that contributes to Angelman syndrome led to a decrease in the ability of vision-related nerve cells in the brain to process visual information in a mouse model of the disease, a study showed. The study, “UBE3A loss increases excitability and…

The seizures of Angelman syndrome patients are dynamic in nature and may change with age. While myoclonic seizures usually happen in early childhood, adolescents and young adults mainly have nonepileptic myoclonus, according to a retrospective study. The study, “Myoclonus in Angelman syndrome,” was published in the journal Epilepsy & Behaviour.

Screening patients with Angelman syndrome and other neurodevelopemental disorders for sleep disturbances can enable multidisciplinary management, and diagnosing and treating these problems may improve patient quality of life, a review that looked at eight neurogenetic diseases reported. The study, “Sleep Disorders in Childhood Neurogenetic Disorders,” was recently published…

A new mutation in the UBE3A gene, which was linked to a more mild form of Angelman syndrome, was found in three children from two unrelated families, according to a case report. The study, “Two Angelman families with unusually advanced neurodevelopment carry a start codon…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…