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全面性癫伴热性惊厥附加症研究进展 被引量:7

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作者 张月华
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2006年第24期1683-1685,共3页 Journal of Applied Clinical Pediatrics
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参考文献24

  • 1Scheffer IE,Berkovic SF.Generalized epilepsy with febrile seizures plus:A genetic disorder with heterogeneous clinical phenotypes[J].Brain,1997,120:479-490.
  • 2任连坤,吴立文,卢强,金丽日,刘秀琴,崔丽英.全面性癫癇伴热性惊厥附加症的临床和脑电图特征分析[J].中华神经科杂志,2005,38(5):293-296. 被引量:14
  • 3张守山,黄希顺,王家勤,尹景岗,魏建科,顾仁骏,卢宏,黄素娟,霍卫红,Robyn H.Wallace,郭学鹏.全面性癫癎伴热性惊厥附加症家系GABRB2基因测序研究[J].实用儿科临床杂志,2006,21(1):30-31. 被引量:9
  • 4Singh R,Scheffer IE,Crossland K,et al.Generalized epilepsy with febrile seizures plus:A common childhood-onset genetic epilepsy syndrome[J].Ann Neurol,1999,45:75-81.
  • 5Singh R,Andermann E,Whitehouse WPA,et al.Severe myoclonic epilepsy of infancy:Extended spectrum of GEFS+[J].Epilepsia,2001,42 (7):837-844.
  • 6Marini C,Harkin LA,Wallace RH,et al.Childhood absence epilepsy and febrile seizures:A family with a GABAA receptor mutation[J].Brain,2003,126:230-240.
  • 7Escayg A,MacDonald BT,Meisler MH,et al.Mutation of SCN1A,encoding a neuronal sodium-channel,in two families with GEFS^+ 2[J].Nat Genet,2000,24:343-345.
  • 8Wallace RH,Wang DW,Singh R,et al.Febrile seizures and generalized epilepsy associated with a mutation in the Na^+-channel β1 subunit gene SCN1B[J].Nat Genet,1998,19:366-370.
  • 9Sugawara T,Tsurubuchi Y,Agarwala KL,et al.A missense mutation of the Na^+ channel (Ⅱ-subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction[J].Proc Natl Acad Sci USA,2001,98:6384-6389.
  • 10Wallace RH,Marini C,Petrou S,et al.Mutant GABAA receptor 2-subunit in childhood absence epilepsy and febrile seizures[J].Nat Genet,2001,28:49-52.

二级参考文献36

  • 1王家勤,尹景岗,黄希顺,郭学鹏.全面性癫癎伴热性惊厥附加症一家系随访分析[J].实用儿科临床杂志,2004,19(8):679-681. 被引量:6
  • 2魏建科,黄希顺,尹景岗,卢宏,魏华,黄素娟,顾仁骏,贾福军,李冲,霍卫,Lemuel Racacho,王家勤,郭学鹏,Dennis Bulman.全身性癫痫伴高热惊厥附加症2个家系致病基因连锁定位分析[J].郑州大学学报(医学版),2005,40(1):32-34. 被引量:2
  • 3沈定国,,吴士文.远端型肌病71例的临床及肌肉病理分析[J].中华神经科杂志,2005,38(4):220-223. 被引量:12
  • 4Cossette P,Liu L,Brisebois K,et al.Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy [ J ].Nature Genet,2002,31:184-189.
  • 5Sugawara T,Tsurubuchi Y,Agarwala KL,et al.A missense mutation of the Na channel alpha Ⅱ subunit gene Na (v) 1.2 in a patient with febrile and aferbrile seizures causes channel dysfunction [ J ].Proc Natl Acad Sci USA,2001,98:6384-6389.
  • 6Scheffer IE,Berkovic SF.Generalized epilepsy with febrile seizures plus:a genetic disorder with heterogeneous clinical phenotypes[J ].Brain,1997,120:479-490.
  • 7Wallace RH,Wang DW,Singh R,et al.Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β-1 subunit gene SCN1B[J ].Nature Genet,1998,19:366-370.
  • 8Escayg A,MacDonald BT,Meisler MH,et al.Mutations of SCN1A,encoding a neuronal sodium channel,in two families with GEFS^+2 [J].Nature Genet,2000,24:343-345.
  • 9Baulac S,Huberfeld G,Gourfinkel-An I,et al.First genetic evidence of GABA(A) receptor dysfunction in epilepsy:a mutation in the γ-2-subunit gene[J ].Nature Genet,2001,28:46-48.
  • 10Singh R,Scheffer IE.Generalised epilepsy with febrile seizures plus (GEFS^+):a common,childhood onset,genetic epilepsy syndrome [J ].Ann Neurol,1999,45:75-81.

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二级引证文献60

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