Pyridoxine‐dependent epilepsy: An under‐recognised cause of intractable seizures
- 6 October 2010
- journal article
- case report
- Published by Wiley in Journal of Paediatrics and Child Health
- Vol. 48 (3), E113-E115
- https://doi.org/10.1111/j.1440-1754.2010.01866.x
Abstract
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. PDE patients are typically resistant to anti-epileptic treatment but respond to the administration of pyridoxine. Different seizure types have been reported in PDE, and episodes of status epilepticus are common. Electroencephalographic or neuroimaging abnormalities are not pathognomonic for this disorder. Intellectual disability is frequent at the follow-up. Recently, elevated urinary α-aminoadipic semialdehyde has been shown to be a reliable biomarker of this disorder, and mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase, have been demonstrated in the large majority of PDE patients. However, early consideration of a pyridoxine trial remains the most important issue in a neonate or in an infant with intractable early onset seizures.Keywords
This publication has 9 references indexed in Scilit:
- Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsyAnnals of Neurology, 2009
- Pyridoxine‐dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regimeDevelopmental Medicine and Child Neurology, 2007
- Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatmentCurrent Opinion in Neurology, 2006
- Mutations in antiquitin in individuals with pyridoxine-dependent seizuresNature Medicine, 2006
- Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizuresneurogenetics, 2005
- Neonatal epileptic encephalopathyThe Lancet, 2003
- Pyridoxine-dependent and pyridoxine-responsive seizuresDevelopmental Medicine and Child Neurology, 2001
- Pyridoxine‐dependent and pyridoxine‐responsive seizuresDevelopmental Medicine and Child Neurology, 2001
- PYRIDOXINE‐DEPENDENT SEIZURES: DEMOGRAPHIC, CLINICAL, MRI AND PSYCHOMETRIC FEATURES, AND EFFECT OF DOSE ON INTELLIGENCE QUOTIENTDevelopmental Medicine and Child Neurology, 1996