Ontology highlight
ABSTRACT:
SUBMITTER: Stevelink R
PROVIDER: S-EPMC6796782 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Stevelink Remi R Pangilinan Faith F Jansen Floor E FE Braun Kees P J KPJ Molloy Anne M AM Brody Lawrence C LC Koeleman Bobby P C BPC
Molecular genetics and metabolism reports 20191011
Altered vitamin B6 metabolism due to pathogenic variants in the gene <i>PNPO</i> 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 <i>PNPO</i> expression in the brain are associated with genetic generalized epilepsy (GGE). However, it is not known whether any of these GGE-associated SNPs influence vitamin B6 metabolite levels. Such an influence would suggest that vitamin ...[more]