Associated Papers
Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.
Alsini H et al.
Molecular Genetics and Metabolism, 2026
Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations.
Tremiño L et al.
Human Mutation, 2018
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Plecko B et al.
Journal of Medical Genetics, 2017
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