Rett syndrome is a devastating developmental disorder, principally occurring in girls, caused by mutations in the gene MECP2 that leads to severe cognitive, motor and other symptoms. That's why the March 12 approval by the ...
Mar 13, 2023
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In Rett syndrome, a genetic condition affecting girls almost exclusively, mutations in the MECP2 gene cause a regression of language and motor skills starting at 12- to 18-months of age. Children then usually stabilize, but ...
Aug 8, 2022
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Infantile spasm (IS) is a severe epileptic syndrome of infancy and accounts for 50% of all epilepsy cases that occur in babies during the first year of life. Current treatment options for this disorder are limited and most ...
May 20, 2022
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Researchers have made a breakthrough genetic discovery into the cause of a spectrum of severe neurological conditions.
Oct 8, 2020
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Research conducted by the University of Valencia (UV) and the Jaume I University of Castellón (UJI), among other institutions, has found alterations to the structure of the brain's nonapeptidergic systems, social behavior ...
Sep 4, 2020
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Scientists successfully edited RNA in a living animal in such a way that the repaired RNA then corrected a mutation in a protein that gives rise to a debilitating neurological disorder in people known as Rett syndrome.
Jul 14, 2020
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An experimental cancer drug can extend the life of mice with Rett Syndrome, a devastating genetic disorder that afflicts about one of every 10,000 to 15,000 girls within 6 to 18 months after birth, Yale researchers report ...
Jun 10, 2020
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The brain undergoes dramatic change during the first years of life. Its circuits readily rewire as an infant and then child encounters new sights and sounds, taking in the world and learning to understand it. As the child ...
Jan 29, 2020
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A new study published in Neurology reports the drug trofinetide has proven safe and effective in treating core symptoms of Rett syndrome in female children and adolescents.
Jun 7, 2019
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Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.
Dec 12, 2018
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