title: Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies.
abstract: 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 ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without pyridoxine treatment. "Hidden" vitamin B6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes.
authors.affiliation: 1Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
authors.forename: Anna
authors.initials: A
authors.lastname: Baumgart
authors.forename: Sarah von
authors.initials: Sv
authors.lastname: Spiczak
authors.forename: Nanda M
authors.initials: NM
authors.lastname: Verhoeven-Duif
authors.forename: Rikke S
authors.initials: RS
authors.lastname: Møller
authors.forename: Rainer
authors.initials: R
authors.lastname: Boor
authors.forename: Hiltrud
authors.initials: H
authors.lastname: Muhle
authors.forename: Johanna A
authors.initials: JA
authors.lastname: Jähn
authors.forename: Laura L
authors.initials: LL
authors.lastname: Klitten
authors.forename: Helle
authors.initials: H
authors.lastname: Hjalgrim
authors.forename: Dick
authors.initials: D
authors.lastname: Lindhout
authors.forename: Ulrich
authors.initials: U
authors.lastname: Stephani
authors.forename: Marjan J A
authors.initials: MJ
authors.lastname: van Kempen
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D012189:Retrospective Studies; D013036:Spasms, Infantile / Q000209:etiology* / Q000235:genetics; D026681:Vitamin B 6 Deficiency / Q000150:complications* / Q000235:genetics
chemical_list: C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase
keywords: ALDH7A1 deficiency; Dravet syndrome; childhood epilepsy; vitamin B6–dependent epilepsy