Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
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DOI: 10.1002/acn3.51272
Abstract: We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in… read more here.
Keywords: epileptic encephalopathy; encephalopathy due; responsive epileptic; two siblings ... See more keywords