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吡哆醇依赖性癫（癎）的临床及分子遗传学研究进展 被引量：7

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摘要 吡哆醇依赖性癫（pyridoxine dependent epilepsy，PDE）是一种常染色体隐性遗传病，也是婴幼儿期起病的难治性癫和癫性脑病之一。其特征为对大剂量的吡哆醇（维生素B6）治疗有效，而对常规的抗癫药效果欠佳。PDE最早由Hunt于1954年描述，确切患病率尚不清楚，少数报道差异很大，为1：2万～1：60万。
作者 杨志仙 秦炯
机构地区 北京大学第一医院儿科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2013年第11期867-870,共4页 Chinese Journal of Pediatrics
关键词 吡哆醇 依赖性 分子遗传学 常染色体隐性遗传病 临床 婴幼儿期 HUNT 难治性
分类号 R742.1 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献36

  • 1Hunt AD,Stokes J,McCrory WW,et al.Pyridoxine dependency:report of a case of intractable convulsions in an infant controlled bypyridoxine.Pediatrics,1954,13:140-145.
  • 2Ebinger M,Schultze C,Konig S.Demographics and diagnosis ofpyridoxine dependent seizures.J Pediatr,1999,134:795-796.
  • 3Been JV,Bok LA,Andriessen P,et al.Epidemiology ofpyridoxine dependent seizures in the Netherlands.Arch Dis Child,2005,90:1293-1296.
  • 4Baxter P.Epidemiology of pyridoxine dependent and pyridoxineresponsive seizures in the UK.Arch Dis Child,1999,81:431-433.
  • 5Plecko B,Stockler-Ipsiroglu S,Paschke E,et al.Pipecolic acidelevation in plasma and cerebrospinal fluid of two patients withpyridoxine-dependent epilepsy.Ann Neurol,2000,48:121-125.
  • 6Mills PB,Struys E,Jakobs C,et al.Mutations in antiquitin inindividuals with pyridoxine-dependent seizures.Nat Med,2006,12:307-309.
  • 7杨志仙,杨小玲,王静敏,张月华,姜玉武,秦炯.吡哆醇依赖性癫痫的临床及乙醛脱氢酶7家庭成员A1基因突变分析[J].中华实用儿科临床杂志,2013,28(7):538-541. 被引量：4
  • 8Goto T,Matsuo N,Takahashi T.CSF glutamate/GABAconcentrations in pyridoxine-dependent seizures:etiology ofpyridoxine-dependent seizures and the mechanisms of pyridoxineaction in seizure control.Brain Dev,2001,23:24-29.
  • 9Cormier-Daire V,Dagoneau N,Nabbout R,et al.A gene forpyridoxine-dependent epilepsy maps to chromosome 5q31.Am JHum Genet,2000,67:991-993.
  • 10Battaglioli,G Rosen DR,Gospe Jr SM,et al.Glutamatedecarboxylase is not genetically linked to pyridoxine-dependentseizures.Neurology,2000,55:309-311.

二级参考文献18

  • 1Gospe SM Jr. Pyridoxine-dependent seizures:new genetic and biochemical clues to help with diagnosis and treatment[J].Current Opinion in Neurology,2006,(02):148-153.doi:10.1097/01.wco.0000218230.81301.12.
  • 2Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures[J].Developmental Medicine and Child Neurology,2001,(06):416-420.doi:10.1017/S0012162201000779.
  • 3Plecko B,St(o)ckler-Ipsiroglu S,Paschke E. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy[J].Annals of Neurology,2000,(01):121-125.
  • 4Struys EA,Jakobs C. Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency[J].Molecular Genetics and Metabolism,2007,(04):405.
  • 5Mills PB,Struys E,Jakobs C. Mutations in antiquitin in individuals with pyridoxine-dependent seizures[J].Nature Medicine,2006,(03):307-309.
  • 6Ebinger M,Schultze C,K(o)nig S. Demographics and diagnosis of pyridoxinedependent seizures[J].Journal of Pediatrics,1999,(06):795-796.
  • 7Been JV,Bok LA,Andriessen P. Epidemiology of pyridoxine dependent seizures in the Netherlands[J].Archives of Disease in Childhood,2005,(12):1293-1296.doi:10.1136/adc.2005.075069.
  • 8Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK[J].Archives of Disease in Childhood,1999,(05):431-433.doi:10.1136/adc.81.5.431.
  • 9Yeghiazaryan NS,Zara F,Capovilla G. Pyridoxine-dependent epilepsy:an under-recognised cause of intractable seizures[J].Journal of Paediatrics and Child Health,2012,(03):E113-E115.
  • 10Bass NE,Wyllie E,Cohen B. Pyridoxine-dependent epilepsy:the need for reoeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion[J].Journal of Child Neurology,1996,(05):422-424.

共引文献3

同被引文献67

  • 1Hunt AD Jr, Stokes J Jr, Mcrory WW, et al. Pyridoxine dependency : report of a case of intractable convulsions in an infant controlled by pyridoxine [ J]. Pediatrics, 1954, 13 (2) : 140-145.
  • 2Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures [J]. Dev Meal Child Neurol, 2001,43(6) :416-420.
  • 3Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med, 2006, 12(3) :307-309. DOI:10. 1038/nm1366.
  • 4Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxinedependent epilepsy and mutations of the antiquitin ( ALDHTAI ) gene [ J ]. Hum Murat, 2007, 28( 1 ) :19-26. DOI: 10. 1002/humu. 20433.
  • 5Stockier S, Plecko B, Gospe SM Jr. Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up[J]. Mol Genet Metab, 2011 , 104(1-2) : 48-60. DOI: 10. 1016/i. vmume. 2011.05. 014.
  • 6Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy ( ALDH7A1 defieieney) [J]. Brain, 2010, 133: 2148-2159. DOI: 10. 1093/ brain/awq143.
  • 7Basura GJ, Hagland SP, Wiltse AM, et al. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures : review of 63 North American cases submitted to a patient registry[J]. Eur J Pediatr, 2009, 168(6) : 697-704. DOI: 10. 1007/s00431-008 -0823 -x.
  • 8Gospe SM Jr. Neonatal vitamin-responsive epileptic eneephalopathies[ J]. Chang Gung Med J, 2010, 33( 1 ) : 1-12.
  • 9Yang Z, Yang X, Wu Y, et al. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants [ J/OL ]. PLoS One, 2014, 9 (3) : e92803. (2014-03-24) [2016-01-01 ]. http://www, nebi. nlm. nih. gov/ pme/articles/PMC3963937/. DOI: 10. 1371/journal. pone. 0092803.
  • 10Xue J, Qian P, Li H, et al. A cohort study of pyridoxine- dependent epilepsy and high prevalence of splice site IVS11 + 1G > A mutation in Chinese patients[ J]. Epilepsy Res, 2015, 118 : 1-4. DOI: 10. 1016/j. eplepsyres. 2015.10. 002.

引证文献7

二级引证文献25

中华儿科杂志
2013年 第11期

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