Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy

Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy

Altered vitamin B6 metabolism due to pathogenic variants in the gene PNPO causes early onset epileptic encephalopathy, which can be treated with high doses of vitamin B6. We recently reported that single nucleotide polymorphisms (SNPs) that influence PNPO expression in the brain are associated with...

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Bibliographic Details
Main Authors: Remi Stevelink, Faith Pangilinan, Floor E. Jansen, Kees P.J. Braun, Anne M. Molloy, Lawrence C. Brody, Bobby P.C. Koeleman
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919301570

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http://www.sciencedirect.com/science/article/pii/S2214426919301570

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