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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Child Neurology: Late-Onset Vitamin B6-Dependent Epilepsy Identified by Rapid Genome Sequencing.
Espinoza AC et al.
Neurology, 2021
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
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
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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