Volume 19 Issue 5
May  2021
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Article Navigation >  Chinese Journal of General Practice  > 2021  >  19(5): 809-811,816
LIU Wei-rong, YAO Yin-ping, JIANG Tao, ZHANG Hang-hu, HU Jia-ni, SHAO Xiao-li. Analysis of clinical data and genetic characteristics in children with genetic epilepsy with febrile seizures plus[J]. Chinese Journal of General Practice, 2021, 19(5): 809-811,816. doi: 10.16766/j.cnki.issn.1674-4152.001923
Citation: LIU Wei-rong, YAO Yin-ping, JIANG Tao, ZHANG Hang-hu, HU Jia-ni, SHAO Xiao-li. Analysis of clinical data and genetic characteristics in children with genetic epilepsy with febrile seizures plus[J]. Chinese Journal of General Practice, 2021, 19(5): 809-811,816. doi: 10.16766/j.cnki.issn.1674-4152.001923
shu

Analysis of clinical data and genetic characteristics in children with genetic epilepsy with febrile seizures plus

doi: 10.16766/j.cnki.issn.1674-4152.001923

  • Department of Pediatrics, Shaoxing People's Hospital, Shaoxing, Zhejiang 312000, China

Funds:

 2020KY327

  • Received Date: 2020-12-08
    Available Online: 2022-02-16
    Abstract
  •   Objective  To investigate and analyse the epidemiology, clinical characteristics and family genetics of children with genetic epilepsy with febrile seizure plus (GEFS+).  Methods  A total of 1 435 children with epilepsy who were admitted to Shaoxing People's Hospital were selected. The incidence rate, epidemiology and clinical characteristics of GEFS+ and their family members were analysed.  Results  Among the 1 435 epileptic children, the incidence rate of GEFS+ was 3.07% (44/1 435). A total of 362 family members (excluding 44 GEFS+ affected children) were obtained from 29 families and family members, of whom 214 (59.12%) were affected. In 44 cases of GEFS+ children, 86.36% (38/44) of the first convulsive seizure occurred as febrile and followed by afebrile or low fever. Among the family members involved, 22.90% (49/214) of the first convulsions occurred as febrile; the later convulsions, without fever or with lower degree of fever. Head MRI examination was conducted in 44 cases of GEFS+, the incidence of temporal lobe abnormalities accounted for 11.54% (3/26)in the children with GEFS+ and for 12.63% (12/95) in the affected family members. Video EEG monitoring test (VEEG) examination was conducted in 44 cases of GEFS+, 23.08% (3/13) were with temporal discharge, and among the affected family members was 20.0% (11/55). Among all the family members, 93.46% (200/214) were GEFS+, 1.87% (4/214) were idiopathic generalised epilepsy and 4.67% (10/214) could not be classified clearly. In addition, 75.97% (196/258) were continuous inheritance, 44.57% (115/258) were paternal (mother) - child family inheritance, 21.71% (56/258) were intergenerational inheritance and 10.47% (27/258) were two line inheritance(maternal and paternal inheritance).  Conclusion  Some children with GEFS+ will develop into refractory epilepsy after clinical standard treatment. The incidence rate of FS or FS+ in family members is high, and the possibility of autosomal dominant inheritance is high.

     

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