Unique model of rare epileptic disease helps pinpoint potential treatment route

While extremely rare, encephalopathy (a condition affecting brain function) triggered by mutations in the UBA5 gene has devastating impacts, with affected individuals reaching few developmental milestones and experiencing frequent and early-onset seizures. Scientists at St. Jude Children’s Research Hospital created a first-of-its-kind cortical organoid model for the disorder, studying how it causes developmental defects and identifying potential ways to treat it. The findings were published…

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News Source: www.sciencedaily.com

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