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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Detalles Bibliográficos
Autores principales: Stevelink, Remi, Pangilinan, Faith, Jansen, Floor E., Braun, Kees P.J., Molloy, Anne M., Brody, Lawrence C., Koeleman, Bobby P.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796782/
https://www.ncbi.nlm.nih.gov/pubmed/31641590
http://dx.doi.org/10.1016/j.ymgmr.2019.100518

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