Child Neurology: Late-Onset Vitamin B₆-Dependent Epilepsy Identified by Rapid Genome Sequencing

Neurology. 2021 May 11;96(19):911-914. doi: 10.1212/WNL.0000000000011891. Epub 2021 Mar 25.

Authors

A Chris Espinoza¹, Melissa A Wright², Meghan S Candee², Cristina Trandafir², Gary R Nelson²

Affiliations

¹ From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX. [email protected].
² From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX.

PMID: 33766999
DOI: 10.1212/WNL.0000000000011891

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
Epilepsy / diagnostic imaging
Epilepsy / drug therapy
Epilepsy / genetics*
Humans
Male
Proteins / genetics*
Pyridoxine / therapeutic use
Vitamin B 6 / genetics*
Vitamin B 6 Deficiency / diagnostic imaging
Vitamin B 6 Deficiency / drug therapy
Vitamin B 6 Deficiency / genetics*
Vitamin B Complex / therapeutic use
Whole Genome Sequencing* / methods

Substances

PLPBP protein, human
Proteins
Vitamin B Complex
Vitamin B 6
Pyridoxine