Publication details
Pyridoxin dependentní epilepsie - kazuistiky
| Title in English | Pyridoxine-dependent Epilepsy - Case Reports |
|---|---|
| Authors | |
| Year of publication | 2017 |
| Type | Article in Periodical |
| Magazine / Source | Česká a slovenská neurologie a neurochirurgie |
| MU Faculty or unit | |
| Citation | |
| Doi | https://doi.org/10.14735/amcsnn2017346 |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | pyridoxine; pyridoxal-phosphate; pyridoxine-dependent epilepsy; pyridoxine-dependent seizures |
| Description | Pyridoxine-dependent epilepsy is a rare autosomal recessive hereditary disorder causing severe intractable epileptic seizures presenting typically in prenatal and neonatal period, rarely in early infancy (age up to 3 years). Pyridoxine-dependent epilepsy, caused by metabolic disturbance of pyridoxine, is associated with mutations in the ALDH7A1 or ALDH4A1 gene. Pyridoxine-dependent epilepsy is successfully treatable using high doses of pyridoxine. The diagnosis is based on biochemical and genetic examinations. Three case reports of patients with a typical clinical course of pyridoxine-dependent epilepsy and genetically detected mutation in the ALDH7A1 gene are presented. |
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