A pharmaceutical company in Italy is teaming up with scientists at the Sapienza University of Rome to find out if blocking NKCC1 — a protein that loads chloride ions into nerve cells, or neurons — may reduce brain activity in people with epilepsy and certain neurological disorders like Rett…
The transition into adulthood of women with Rett syndrome warrants a tailored program and a multidisciplinary team to provide the best clinical care, according to a 13-year Italian study of the complex symptoms experienced by these patients. Most adults with Rett deal with symptoms ranging from epilepsy and bone…
Girls and women with Rett syndrome caused by a mutation usually associated with milder disease have the poorest quality of life, according to a large study. Data from this and previous studies suggest that such patients experience behavioral problems, including sleep disturbances, that profoundly affect quality of life. The…
Note: This story was updated July 24, 2020, to note that Rett affects mostly girls and women, but can also occur in males. About 40% of parents whose daughters have Rett syndrome show clinically high levels of stress, an Italian study found. Stress levels correlate with both disease…
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