Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation

Nune S Yeghiazaryan; Pasquale Striano; Luigina Spaccini; Marianna Pezzella; Denise Cassandrini; Federico Zara; Massimo Mastrangelo

doi:10.1016/j.ejpn.2011.05.011

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation

Eur J Paediatr Neurol. 2011 Nov;15(6):547-50. doi: 10.1016/j.ejpn.2011.05.011. Epub 2011 Jul 5.

Authors

Nune S Yeghiazaryan¹, Pasquale Striano, Luigina Spaccini, Marianna Pezzella, Denise Cassandrini, Federico Zara, Massimo Mastrangelo

Affiliation

¹ Muscular and Neurodegenerative Disease Unit and Laboratory of Neurogenetics, Institute G. Gaslini, University of Genova, Genova, Italy. [email protected]

PMID: 21733724
DOI: 10.1016/j.ejpn.2011.05.011

Abstract

Pyridoxine-dependent seizures (PDS) is a rare disorder characterized by seizures resistant to anticonvulsants but controlled by daily pharmacologic doses of pyridoxine. Mutations in the antiquitin (ALDH7A1) gene have recently reported to cause PDS in most of patients. We report the long-term follow-up in two PDS siblings carrying a novel ALDH7A1 mutation.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Aldehyde Dehydrogenase / genetics*
Corpus Callosum / pathology
Diffusion Magnetic Resonance Imaging
Electroencephalography
Epilepsy / drug therapy
Epilepsy / genetics*
Female
Genetic Association Studies
Humans
Longitudinal Studies
Male
Mutation / genetics*
Pyridoxine / therapeutic use*
Siblings
Vitamin B Complex / therapeutic use*

Substances

Vitamin B Complex
ALDH7A1 protein, human
Aldehyde Dehydrogenase
Pyridoxine

Supplementary concepts

Pyridoxine-dependent epilepsy