January 15, 2020
Dr. Meredith’s Research into the KCNMA1 Gene Mutation is an Important Step in Understanding this Disorder
One night just before bed in August 2018, Andrea Meredith, PhD, was reading the New York Times Magazine on her iPad when she came across an article about a six-year-old girl in South Dakota named Kamiyah who had a mysterious disorder. Over 300 times a day, the little girl would fall or slump forward, with large portions of her body paralyzed. An episode would last anywhere from three to 20 seconds. Then, suddenly, she would pop back up and resume whatever she was doing. The article mentioned that Kamiyah had paroxysmal dyskinesia, a type of movement disorder. But the cause was unknown.
The symptoms began to sound eerily familiar to Meredith: She realized the article could be describing the gene and ion channel her lab was focused on every day. “I turned to my husband and sort of said it for the record: ‘Hey, Jim. This looks like a BK channel mutation, but they don’t name the gene. It’s torturous.’”
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Using a common attention deficit hyperactivity disorder (ADHD) medication appears to help manage the symptoms of a rare and currently difficult to treat genetic movement disorder primarily found in children, according to a new study from a University of Maryland School of Medicine (UMSOM) researcher Andrea Meredith, PhD, and her collaborators.
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