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
Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants.
Nakamura S et al.
European Journal of Medical Genetics, 2025
The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY.
Tremiño L et al.
Life (basel, Switzerland), 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8
Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.
Heath O et al.
Jimd Reports, 2021
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Shiraku H et al.
Epilepsia Open, 2018
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
Studies on cyanobacterial protein PipY shed light on structure, potential functions, and vitamin B6 -dependent epilepsy.
Tremiño L et al.
Febs Letters, 2017
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Darin N et al.
American Journal of Human Genetics, 2016
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