Frequent Genetic Cause of Seizures Identified
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay. By querying its data repository of rare diseases ─ CentoMD®, CENTOGENE contributed several cases to the study, which was published in Nature Communications.