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 costly and slow, contributing to a delay in clinical diagnosis and overall morbidity of the disease. A team of researchers led by Curtis Coughlin have identified a novel biomarker and developed a quantitation method for the diagnosis of PDE. This biomarker has remarkable stability at room temperature and can be directly detected from blood samples making it an excellent candidate for prompt diagnosis of PDE.


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For Information, Contact:
Doreen Molk
University of Colorado
Curtis Coughlin II
Michael Wempe
Johan Van Hove
Disease Areas:
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