Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Mahmoud, A.
Phenotypical Variations in Pyridoxine Dependent Epilepsy caused by Mutations in the Antiquitin Gen
[ Diplomarbeit ] Medical University of Graz; 2008. pp. 91
[OPEN ACCESS]
FullText
- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Plecko Barbara
- Altmetrics:
- Abstract:
- Pyridoxine dependent epilepsy (PDE) was first described by Hunt et al. in 1954 as a specific form of epilepsy. It is characterized by neonatal onset of therapy resistant seizures. Late onset cases are possibel with a probably less severe form of the condition. Application of pyridoxine (vitamin B6) leads to cessation of seizures and lifelong treatment is necessary to avoid seizure recurrence. Patients so far have been classified clinically as having definite, probable or possible PDE. PDE follows autosomal- recessive inheritance and maps to chromosome 5q31, with an estimated incidence of 1:100 000. For a long time glutamic acid decarboxylase (GAD), has been claimed to be the abnormal gene product. Studies on glutamate and gamma-aminobutyric acid (GABA) in cerebrospinal fluid (CSF) have brought contradictory results to support this hypothesis. In 2006 PDE has been shown to be caused by a defect of alpha-amino adipic semialdehyde (AASA) dehydrogenase (Antiquitin) in the cerebral lysine degradation pathway. The long- term outcome of PDE patients is determined by several factors, as age at seizure onset, delay of specific treatment and probably also by the underlying mutations of the Antiquitin gene. This work is focussing on the phenotypical characterization of 30 molecularly defined PDE patients, with mutations of the Antiquitin gene, collected in the framework of an international cooperation of 17 centers.