Thursday, February 28, 2019 10:11:56 PM
Wikipedia/Merriam-Webster Dictionary it is spelled Angelman Syndrome
Angelman syndrome noun
An·?gel·?man syndrome | \ 'an-j?l-m?n-, 'an- \
variants: also Angelman's syndrome \ -?m?nz-? \
Medical Definition of Angelman syndrome
: a genetic disorder characterized by severe mental retardation, seizures, ataxic gait, jerky movements, lack of speech, microcephaly, and frequent smiling and laughter
https://www.merriam-webster.com/medical/Angelman%20syndrome
https://en.wikipedia.org/wiki/Angelman_syndrome
https://www.anavex.com/#!/home
From PR on 7/17/17
https://angelmansyndromenews.com/2017/07/17/study-reports-that-anavex-2-73-decreases-seizures-in-mice-angelman-syndrome/
Anavex 2-73 Reduces Angelman Syndrome Seizures in Mice, Study Reports
JULY 17, 2017 Joana Fernandes, PhD
ANAVEX 2-73 significantly reduced sound-triggered seizures in mice with Angelman syndrome, according to a preclinical-trial study.
Its developer, Anavex Life Sciences, reported the results at the Antiepileptic Drug Trials XIV 2017 Conference in North Miami Beach, May 17-19. The presentation was titled “ANAVEX 2-73, a Clinical Candidate for Neurodevelopmental Disorders: New data Including Anti-Seizure data in Angelman Syndrome.”
Anavex 2-73 is an oral therapy that helps cells clean out faulty proteins by targeting the sigma-1 and muscarinic protein receptors.
Dr. Anne Anderson’s research team at the Baylor College of Medicine in Houston tested Anavex 2-73 as a treatment for seizures in mice with Angelman syndrome. Seizures are one of the disease’s most frequent symptoms.
The research dealt with audiogenic seizures, or convulsions triggered by prolonged exposure to high-frequency sound. The study was sponsored by the Foundation for Angelman Syndrome Therapeutics, or FAST.
Researchers discovered that Anavex 2-73 significantly decreased the mice’s seizures.
“We are impressed with the positive anti-seizure signal of ANAVEX 2-73,” Paula M. Evans, FAST’s chair, said in a news release. “Most people with Angelman syndrome have recurrent seizures throughout their lives, which is a serious challenge for the individual and caretakers.”
Studies of mice with Fragile X syndrome and Rett syndrome have also shown that Anavex 2-73 is effective against neurological disorders.
It improved what are known as behavioral deficits in mice with Fragile X syndrome. When expected behaviors fail to show up in people or animals by a certain age, scientists refer to them as behavioral deficits.
In addition to reducing the mice’s behavioral deficits, Anavex restored their levels of BDNF, a protein that plays a crucial role in neuron growth and survival.
Anavex 2-73 also improved apnea — or suspension of breathing — and vision in mice with Rett syndrome.
“We are encouraged by these converging positive preclinical findings, confirming the potential therapeutic effect of ANAVEX 2-73 in neurodevelopmental diseases,” said Dr. Christopher U. Missling, Anavex’s president and CEO.
Angelman syndrome is a genetic disorder that affects one in 15,000 infants, according to the Angelman Syndrome Foundation.
Eighty percent of patients experience seizures. Other symptoms include intellectual disabilities, developmental delays, inability to speak, sleep disorders, and movement and balance anomalies. Together, the symptoms require that patients receive life-long care.
Children with Angelman syndrome typically have a happy expression, with frequent smiling, laughter, and hand-flapping movements. They are also hyperactive and have a short attention span. As they grow older, they tend to become less excitable
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