A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy-Reference-Cited by-同舟云学术

A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

Published:2021-02-23 Issue:1 Volume:59 Page:32-41
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Pal Maitou¹,Lace Baiba²^ORCID,Labrie Yvan³,Laflamme Nathalie³,Rioux Nadie³,Setty Samarth Thonta³,Dugas Marc‐Andre⁴,Gosselin Louise³,Droit Arnaud³,Chrestian Nicolas⁵,Rivest Serge³

Affiliation:

1. Faculty of Medicine Laval University Québec Québec Canada

2. Department of Medical Genetics Centre Mère Enfant Soleil, Laval University Québec Québec Canada

3. Centre de recherche CHU de Québec‐ Université Laval, Laval University Québec Québec Canada

4. Department of Pediatrics Centre Mère Enfant Soleil, Laval University Québec Québec Canada

5. Department of Pediatric Neurology, Pediatric Neuromuscular Disorder Centre Mère Enfant Soleil, Laval University Québec Québec Canada

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12196

Reference24 articles.

1. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine;Hunt A;Pediatrics,1954

2. Epidemiology of pyridoxine dependent seizures in the Netherlands

3. Vitamin B6 and Its Role in Cell Metabolism and Physiology

4. Disorders affecting vitamin B 6 metabolism

5. Pyridoxine dependent epilepsy and antiquitin deficiency

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1. Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein;Journal of Biological Chemistry;2023-09

2. Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review;Children;2023-03-15

3. Portrait of autosomal recessive diseases in the French‐Canadian founder population of Saguenay‐Lac‐Saint‐Jean;American Journal of Medical Genetics Part A;2023-02-14

4. Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency;Neuropediatrics;2022-12-28

5. Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases;Frontiers in Neurology;2022-10-17