Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies.

Abstract excerpt

ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes. We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aldehyde Dehydrogenase
• Share to Electroencephalography