title: Novel mutations in pyridoxine-dependent epilepsy.
abstract: OBJECTIVE
  Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease has to be diagnosed early and treated to improve outcome. We report on two new mutations that open new prenatal prospects and suggest a new diagnostic procedure.
  
  
  METHODS
  We describe PDE in a neonate carrying two novel mutations in the ALDH7A1 gene: c.[852_856delCTTAG] + [1230C > A]; p.[(Phe410Leu)] + p.[(Leu285CysfsX26)]. This case also illustrates that diagnosis could have been made without any pyridoxine withdrawal, thanks to the measurement of biomarkers. The patient was successfully treated with pyridoxine supplementation and currently shows normal neurological development.
authors.affiliation: Division of Neonatology, Department of Paediatrics, Grenoble University Hospital, France.
authors.forename: A
authors.initials: A
authors.lastname: Millet
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: F
authors.initials: F
authors.lastname: Cneude
authors.forename: C
authors.initials: C
authors.lastname: Corne
authors.forename: T
authors.initials: T
authors.lastname: Debillon
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: E
authors.initials: E
authors.lastname: Struys
authors.forename: S
authors.initials: S
authors.lastname: Hamelin
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D002675:Child, Preschool; D004827:Epilepsy / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D055815:Young Adult
chemical_list: C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase