Pyridoxine-dependent Epilepsy – Case Reports

Authors: Š. Aulická 1;  L. Fajkusová 2;  P. Šilerová 2;  L. Elstnerová 3;  T. Jimramovský 3;  E. Dortová 4;  H. Ošlejšková 1
Authors‘ workplace: Centrum pro epilepsie Brno, Klinika dětské neurologie LF MU a FN Brno 1;  Centrum molekulární biologie a genové terapie, Interní hematoonkologická klinika LF MU a FN Brno 2;  Pediatrická klinika LF MU a FN Brno 3;  Neonatologické oddělení, FN Plzeň 4
Published in: Cesk Slov Neurol N 2017; 80/113(3): 346-349
Category: Case Report

Tento projekt byl podpořen Lékařskou fakultou Masarykovy Univerzity (číslo grantu ROZV/ 24/ / LF/ 2016).


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.

Key words:
pyridoxine – pyridoxal-phosphate – pyridoxine-dependent epilepsy – pyridoxine-dependent seizures

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Chinese summary - 摘要

吡哆素依赖性癫痫 - 病例报告

吡哆素依赖性癫痫是一种罕见的常染色体隐性遗传性疾病,导致严重顽固性癫痫发作,典型地出现在产前和新生儿期,很少在婴儿期(3岁以下)。 由吡哆醇代谢紊乱引起的吡哆素依赖性癫痫与ALDH7A1或ALDH4A1基因突变有关。 吡哆素依赖性癫痫可以使用高剂量的吡哆醇成功治疗。 诊断是基于生物化学和遗传学检查。 介绍了典型的吡哆醇依赖性癫痫临床病程和ALDH7A1基因遗传检测突变患者的病例报告。


吡哆醇 - 吡哆醛 - 磷酸 - 吡哆素依赖性癫痫 - 吡哆醇依赖性癫痫发作


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Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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2017 Issue 3

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