简体中文

婴儿癫痫伴游走性局灶性发作

（epilepsy of infancy with migrating focal seizures，EIMFS）

病因：不明，部分和一些基因突变相关（如KCNT1（最常见）、SLC25A22、PLCB1、SCN1A、SCN2A、SCN8A、GABRG2、TBC1D24、GABRB3、CLCN2、PCDH19、PRRT2、ATP7A、FGF12、FGF13、ADSL、QARS、SLC12A5、ALDH7A1、DOCK6、ALG1、WWOX等）[1-14]。

发病年龄：一般在生后6个月内发病（平均在生后3个月）。

发作特点：可表现局灶性运动性发作（可单独或联合自主神经症状同时出现，最初可散发，但通常在癫痫发作后数周至数月内发作频率明显增加，局灶性阵挛发作很常见（可涉及手臂或眼睑），另可出现行为终止（可伴或不伴有头眼偏转）），常可进展为全面强直阵挛发作，双侧可交替受累，在同一次的癫痫发作或癫痫持续状态事件中，随机但连续累及多个独立皮质区域的游走性局灶性发作是诊断该综合征必须要有的标准[15-16]。

脑电图表现：发病初期发作间期脑电可正常，随着病情进展，背景活动变慢，出现多灶性慢波和棘波活动。发作期脑电呈多灶性起源（通常是节奏性的α或θ活动），常从一侧半球游走到另一侧半球，或在同侧半球内游走，也可只表现为临床下电发作 [16-17]。

头颅磁共振表现：部分早期正常，后期出现萎缩等非特异性改变。

发育情况：部分早期可能正常，后期常进展为严重的发育落后。

讨论版块：点击进入婴儿癫痫伴游走性局灶性发作讨论版块。

 

参考文献

  1. Barcia, G., et al., De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.Nat Genet, 2012. 44(11): p. 1255-9.
  2. Poduri, A., et al., SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol, 2013. 74(6): p. 873-82.
  3. Poduri, A., et al., Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.Epilepsia, 2012. 53(8): p. e146-50.
  4. Carranza Rojo, D., et al., De novo SCN1A mutations in migrating partial seizures of infancy.Neurology, 2011. 77(4): p. 380-3.
  5. Howell, K.B., et al., SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.Neurology, 2015. 85(11): p. 958-66.
  6. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia, 2014. 55(7): p. 994-1000.
  7. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders. Seizure, 2019. 69: p. 99-104.
  8. Milh, M., et al., Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.Hum Mutat, 2013. 34(6): p. 869-72.
  9. Sterbova, K., et al., Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins. Neuropediatrics, 2018. 49(3): p. 204-208.
  10. Takeguchi, R., et al., Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.Brain Dev, 2018. 40(8): p. 728-732.
  11. Coppola, G., et al., Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy. Brain Dev, 2006. 28(2): p. 76-9.
  12. McTague, A., et al., The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol, 2016. 15(3): p. 304-16.
  13. McTague, A. and M.A. Kurian, SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures, in GeneReviews((R)), M.P. Adam, et al., Editors. 1993: Seattle (WA).
  14. Liwen Wu., et al., Epilepsy of Infancy With Migrating Focal Seizures (EIMFS): Expansion of Clinical Phenotypic And Genotypic Spectra. Scientific Reports, 2021.12 (under review, for medical professional reference only).
  15. International League Against Epilepsy. Epilepsy of infancy with migrating focal seizures (Accessed December 27, 2021).
  16. Panayiotopoulos.  癫痫综合征及临床治疗.  北京 : 人民卫生出版社, 2012.
  17. 刘晓燕.  临床脑电图学. 第2版.  北京 : 人民卫生出版社, 2017.