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IMAGE: Jing-Qiong (Katty) Kang, M.D., Ph.D., associate professor of Neurology and Pharmacology, Vanderbilt University Medical Center. view more
Credit: Vanderbilt University Medical Center
Researchers at Vanderbilt University Medical Center (VUMC) have identified a common mechanism underlying a spectrum of epilepsy syndromes and neurodevelopmental disorders, including autism, that are caused by variations in a gene encoding a vital transporter protein in the brain.
Their findings, reported last month in the journal
Brain, suggest that boosting transporter function via genetic or pharmacological means could be beneficial in treating brain disorders linked to these genetic variations. This points (to) a clear direction of treating a wide spectrum of neurodevelopmental disorders, from various epilepsy syndromes (and) autism to neurodevelopmental delay and intellectual disabilities, caused by the pathological variants in this gene, said Jing-Qiong (Katty) Kan