Pyridoxine-dependent and pyridoxine-responsive seizures
Pyridoxine-dependent and pyridoxine-responsive seizures
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DOI：
10.1017/s0012162201000779
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发表时间：
2001-06-01
影响因子：
3.8
通讯作者：
Baxter, P
中科院分区：
文献类型：
--
作者：
Baxter, P
吡哆醇依赖是最早被发现的遗传介导的癫痫发作疾病之一。然而，生化异常和基因位点仍然未知。关于这种情况的知识来自病例报告和小型临床系列。然而，新的功能仍然被识别临床上，以及更可预测的，从新的成像技术的应用。存在对吡哆醇有反应的早发性癫痫发作，这似乎不是同一种疾病。在世界上的一些地方，大剂量吡哆醇被用于治疗幼儿的其他主要癫痫疾病，如韦斯特综合征。
Pyridoxine dependency was one of the first genetically mediated seizure disorders to be recognized. However, the biochemical abnormality and gene locus are still unknown. Knowledge about the condition has come from case reports and small clinical series. However, new features are still being recognized both clinically, as well as more predictably, from the application of new imaging techniques. Early onset seizures responsive to pyridoxine exist which do not appear to be the same disorder. In some parts of the world, high-dose pyridoxine is used in the treatment of other major seizure disorders of young children such as West syndrome.