期刊文献+

吡哆醇依赖性癫痫一例

原文传递
导出
摘要 吡哆醇依赖性癫痫(pyridoxine-dependent seizures, PDS)是一种少见的常染色体遗传性疾病,也是婴幼儿期发病的难治性癫痫之一。PDS发病率一般认为在1:500000左右,但实际发病率很可能高于此比例,与很多临床病例未被明确诊断有关。我科诊断1例PDS患者,报道如下。
作者 杨斌 叶小飞
出处 《中华神经科杂志》 CAS CSCD 北大核心 2010年第3期237-238,共2页 Chinese Journal of Neurology
  • 相关文献

参考文献10

  • 1Been JV,Bok LA,Andriessen P,et al.Epidemiology of pyridoxine dependent seizures in the Netherlands.Arch Dis Child,2005,90:1293-1296.
  • 2Baxter P.Pyridoxine-dependent seizures:a clinical and biochemical conundrum.Biochim Biophys Acta,2003,1647:36-41.
  • 3Fusco L,Pachatz C,Di Capua M,et al.Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).Brain Dev,2001,23:708-714.
  • 4Shih JJ,Kornblum H,Shewmon DA.Global brain dysfunction in an infant with pyridoxine dependency:evaluation with EEG,evoked potentials,MRI,and PET.Neurology,1996,47:824-826.
  • 5Ulvi H,Müngen B,Yakinci C,et al.Pyridoxine-dependent seizures:long-term follow-up of two cases with chnical and MRI findings,and pyridoxine treatment.J Trop Pediatr,2002,48:303-306.
  • 6Gospe SM Jr.Pyridoxine-dependent seizures:new genetic and biochemical clues to help with diagnosis and treatment.Curr Opin Neurol,2006,19:148-153.
  • 7Cormier-Daire V,Dagonean N,Nabbout R,et al.A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.Am J Hum Genet,2000,67:991-933.
  • 8Kanno J,Kure S,Narisawa A,et al.Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.Mol Genet Metab,2007,91:384-389.
  • 9Mills PB,Surtees BA,Champion MP,et al.Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidaae.Hum Mol Genet,2005,14:1077-1086.
  • 10Grillo E,Silva RJ,Barbato JH Jr.Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine.Dev Med Child Neurol,2001,43:413-415.

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部