Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy

Published 2016 View Full Article

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Title
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy
Authors
Keywords
epilepsy, PROSC, YggS, pyridoxine, pyridoxal 5’-phosphate, homeostasis, microcephaly, vitamin B6, treatment, developmental delay
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 99, Issue 6, Pages 1325-1337
Publisher
Elsevier BV
Online
2016-12-02
DOI
10.1016/j.ajhg.2016.10.011

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