Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Author:

Wempe Michael F.1,Kumar Amit1,Kumar Vijay1,Choi Yu J.1,Swanson Michael A.2,Friederich Marisa W.2,Hyland Keith3,Yue Wyatt W.4,Van Hove Johan L. K.2,Coughlin Curtis R.2ORCID

Affiliation:

1. School of Pharmacy, Department of Pharmaceutical Sciences; University of Colorado; Aurora Colorado

2. Department of Pediatrics, Section of Clinical Genetics and Metabolism; University of Colorado School of Medicine; Aurora Colorado

3. Medical Neurogenetics Laboratories, LLC; Atlanta Georgia

4. Structural Genomics Consortium, Nuffield Department of Clinical Medicine; University of Oxford; Oxford UK

Funder

Pyridoxine-Dependent Epilepsy Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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