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
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Gan Y et al.
Acta Epileptologica, 2024
Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.
Cruz Marino T et al.
American Journal of Medical Genetics. Part A, 2023
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.
Alsubhi S et al.
Frontiers in Neurology, 2022
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.
Pal M et al.
Jimd Reports, 2021
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL et al.
Brain : a Journal of Neurology, 2019
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