Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures
Article first published online: 20 AUG 2008
Wiley Periodicals, Inc. © 2008 International League Against Epilepsy
Volume 50, Issue 4, pages 933–936, April 2009
How to Cite
Striano, P., Battaglia, S., Giordano, L., Capovilla, G., Beccaria, F., Struys, E. A., Salomons, G. S. and Jakobs, C. (2009), Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. Epilepsia, 50: 933–936. doi: 10.1111/j.1528-1167.2008.01741.x
- Issue published online: 3 APR 2009
- Article first published online: 20 AUG 2008
- Accepted June 6, 2008; Early View publication August 20, 2008.
- Pyridoxine-dependent seizures;
- ALDH7A1 mutation;
- Vitamin B6;
Pyridoxine-dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine. We report two unrelated patients affected with PDS as a result of α-aminoadipic semialdehyde (α-AASA) dehydrogenase deficiency caused by pathogenic ALDH7A1/antiquitin mutations. Two of the three reported mutations are novel and result in erroneous splicing, as showed by messenger RNA (mRNA) studies.
So far, the vast majority of the patients clinically diagnosed as PDS show α-AASA dehydrogenase deficiency, caused by mutations in the ALDH7A1 gene. However, despite the availability of reliable biomarkers, early consideration of a pyridoxine trial is still the most important issue in a child with therapy-resistant seizures.