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
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
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
Akiyama T et al.
Pediatric Neurology, 2020
Biochemical and Proteomic Studies of Human Pyridoxal 5'-Phosphate-Binding Protein (PLPBP).
Fux A et al.
Acs Chemical Biology, 2020
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Jensen KV et al.
Jimd Reports, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL et al.
Brain : a Journal of Neurology, 2019
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Shiraku H et al.
Epilepsia Open, 2018
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