热性惊厥附加症,遗传性癫痫伴热性惊厥附加症

(febrile seizures plus, genetic epilepsy with febrile seizures plus)

病因:两者区别在于有无家族史,多和基因突变相关(如SCN1ASCN1BGABRG2GABRB3SCN2APCDH19GABRDGABRB2等,注意上述部分基因的突变也可以引起严重的发育性癫痫性脑病,和突变位点的不同以及其它因素有关),有些也可能涉及复杂的多基因遗传模式[1-8]。

发病年龄:通常在6个月到6岁之间以热性惊厥起病,可以持续到6岁以上,但通常是自限性的,典型的病例多数到青春期后就会消失。

发作特点:可以同时有无热发作(偶发),主要表现为全面强直阵挛发作(经典的情况下多见,可持续3-6分钟左右),另外也可以出现失张力发作、肌阵挛发作、失神发作或肌阵挛-失张力发作(但如果以这个发作类型为主,并且热性惊厥不是占主要发作的情况下诊断癫痫伴肌阵挛-失张力发作(Doose 综合征)可能更合适),此外也可有局灶性发作(额叶或颞叶起源多见),如果热性惊厥发作时间明显延长或出现半侧阵挛发作还需要考虑Dravet 综合征可能[9-10]。

脑电图表现背景活动:正常。发作间期:可正常,部分可表现为顶区为主的4-7Hz的theta节律,广泛性棘慢复合波阵发,也可有Rolandic区或枕区的棘慢复合波。发作期:脑电随发作类型的不同变化较大[9-10]。

头颅磁共振表现:多数正常。

发育情况:基本正常。

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参考文献

  1. Spampanato, J., et al., Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.J Neurosci, 2001. 21(19): p. 7481-90.
  2. Wallace, R.H., et al., Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.Nat Genet, 1998. 19(4): p. 366-70.
  3. Harkin, L.A., et al., Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.Am J Hum Genet, 2002. 70(2): p. 530-6.
  4. Moller, R.S., et al., Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology, 2017. 88(5): p. 483-492.
  5. Liu, X.W., et al., The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. Clin Neurol Neurosurg, 2018. 169: p. 86-91.
  6. Depienne, C., et al., Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat, 2011. 32(1): p. E1959-75.
  7. Dibbens, L.M., et al., GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.Hum Mol Genet, 2004. 13(13): p. 1315-9.
  8. Yang, Y., et al., Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy. Dev Med Child Neurol, 2020. 62(10): p. 1213-1220.
  9. Panayiotopoulos.  癫痫综合征及临床治疗.  北京 : 人民卫生出版社, 2012.
  10. 刘晓燕.  临床脑电图学. 第2版.  北京 : 人民卫生出版社, 2017.