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Diagnostic Markers for Pyridoxine Dependent Epilepsy

Pyridoxine dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in the prenatal and neonatal period. Approximately, 75% of those diagnosed suffer from intellectual disability and developmental delay. Although effective treatments exist, therapeutics must be administered quickly and current diagnosis procedures are...

Published: 8/29/2022 | Inventor(s): Curtis Coughlin II, Michael Wempe, Johan Van Hove

Disease Areas Neurology

Category(s): Diagnostics