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

ABSTRACT: Vitamin B6-responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs. Recently, biallelic mutations in PLPBP were shown to be a novel cause of vitamin B6-dependent epilepsy with a variable phenotype. The different vitamin B6-responsive epilepsies can be detected and distinguished by their respective biomarkers and genetic analysis. Unfortunately, metabolic biomarkers for early detection and prognosis of PLPBP deficiency are currently still lacking. Here, we present data from two further patients with vitamin B6-dependent seizures caused by variants in PLPBP, including a novel missense variant, and compare t

SUBMITTER: Jensen KV 

PROVIDER: S-EPMC6850975 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature