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
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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