Article
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.
The Turkish journal of pediatrics - 1 Jan 2000
Gül-Mert Gülen, İncecik Faruk, Hergüner M Özlem, Ceylaner Serdar, Altunbaşak Şakir
Abstract excerpt
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of pyridoxine. We present the clinical and molecular genetic findings of two patients with c.1597_1597delG mutations in ALDH7A1 gene. There are different clinical phenotypes in...
Topics
- Aldehyde Dehydrogenase
- Anticonvulsants
- Child
- Child, Preschool
- Developmental Disabilities
- Epilepsy
- Female
- Humans
- Male
- Mutation
- Phenotype
- Pyridoxine