Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene-Reference-Cited by-同舟云学术

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

Published:2019-09-30 Issue:1 Volume:50 Page:1-8
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Jensen Kristian Vestergaard¹,Frid Maria²,Stödberg Tommy³⁴,Barbaro Michela⁵⁶,Wedell Anna⁵⁷,Christensen Mette⁸,Bak Mads⁸,Ek Jakob⁸,Madsen Camilla Gøbel⁹,Darin Niklas¹⁰,Grønborg Sabine⁸¹¹^ORCID

Affiliation:

1. Department of NeonatologyCopenhagen University Hospital Copenhagen Denmark

2. Department of PaediatricsRyhov County Hospital Jönköping Sweden

3. Department of Women's and Children's HealthKarolinska Institutet Stockholm Sweden

4. Neuropaediatric UnitKarolinska University Hospital Stockholm Sweden

5. Centre for Inherited Metabolic DiseasesKarolinska University Hospital Stockholm Sweden

6. Department of Molecular Medicine and SurgeryKarolinska Institutet Stockholm Sweden

7. Department of Molecular Medicine and SurgeryScience for Life Laboratory, Karolinska Institutet Stockholm Sweden

8. Department of Clinical GeneticsCopenhagen University Hospital Copenhagen Denmark

9. Department of Radiology, Centre for Functional and Diagnostic Imaging and ResearchCopenhagen University, Hvidovre Hospital Hvidovre Denmark

10. Department of PediatricsUniversity of Gothenburg, Sahlgrenska University Hospital Gothenburg Sweden

11. Centre for Inherited Metabolic Diseases, Department of PaediatricsCopenhagen University Hospital Copenhagen Denmark

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12063

Reference15 articles.

1. The B6 database: a tool for the description and classification of vitamin B6-dependent enzymatic activities and of the corresponding protein families

2. Evidence that COG0325 proteins are involved in PLP homeostasis

3. Seminar in Epileptology treatable newborn and infant seizures due to inborn errors of metabolism;Campistol J;Epileptic Disord,2015

4. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

5. Confirmation of mutations inPROSCas a novel cause of vitamin B6-dependent epilepsy

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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. The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot–Marie–Tooth Disease with the Compromised Status of Vitamin-Dependent Processes;Biology;2023-06-22

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

4. Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene;Metabolic Brain Disease;2022-10-29

5. Characterization of the Escherichia coli pyridoxal 5′‐phosphate homeostasis protein ( YggS ): Role of lysine residues in PLP binding and protein stability;Protein Science;2022-10-26