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Clinical Characteristics and Treatment Outcomes in Children With Non-Acquired Epilepsy: A Cohort Study Based on

Jia Zhang1,2, Xiaoqian Wang2,3, Xueyi Rao2

  • 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Clinical Genetics
|December 11, 2025
PubMed

Insights

Genetic testing in children with epilepsy improves diagnosis and prognosis. Gene-positive epilepsy patients showed poorer treatment response, highlighting genetic testing

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Epilepsy Research

Background:

  • Epilepsy in children presents complex diagnostic and prognostic challenges.
  • Understanding genetic contributions is crucial for targeted treatment.

Purpose of the Study:

  • To analyze clinical phenotypes, treatment response, and risk factors in children with epilepsy based on genetic testing results.
  • To evaluate the prognostic and therapeutic guidance value of genetic testing in pediatric epilepsy.

Main Methods:

  • Retrospective-prospective cohort study of 848 children with non-acquired epilepsy.
  • Genetic testing was performed, and patients were followed for 1-5 years.
  • Comparative analysis between Gene-positive and Gene-negative groups.

Main Results:

  • The Gene-negative group demonstrated a better response to anti-seizure medications (ASMs) compared to the Gene-positive group.
  • Specific risk factors for poor treatment response were identified in both groups.
  • Children with positive genetic findings showed greater developmental delays and poorer treatment outcomes.

Conclusions:

  • Genetic testing provides critical prognostic and therapeutic guidance in pediatric epilepsy.
  • Early treatment response at 3 months is a significant predictor of long-term outcomes.
  • Identifying genetic causes aids in tailoring therapeutic strategies for improved epilepsy management.

Keywords:
childrendevelopmental delaygenetic epilepsysecond‐generation sequencingtreatment response

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