Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.

ABSTRACT:

Background

Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects).

Patients and methods

We conducted a systematic review of published pediatric cases with a confirmed molecular genetic diagnosis of vitamin B6-dependent epilepsy according to PRISMA guidelines. Data on demographic features, seizure semiology, EEG patterns, neuroimaging, treatment, and developmental outcomes were collected.

Results

497 published patients fulfilled the inclusion criteria. Seizure onset manifested at 59.8 ± 291.6 days (67.8% of cases in the first month of life). Clo

SUBMITTER: Mastrangelo M 

PROVIDER: S-EPMC10047402 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature