Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
Wenjie Chen1, Jiong Qin1, Yiping Shen2
1Department of Paediatrics, Peking University People's Hospital, Beijing 100044, China.
Brain & Development
|June 14, 2021
Summary
Next-generation sequencing (NGS) effectively diagnoses Mendelian genetic causes in unexplained pediatric epilepsy. Female patients with syndromic epilepsy and early onset seizures show the highest diagnostic yield.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Unexplained pediatric epilepsy presents a diagnostic challenge.
- Identifying genetic causes is crucial for targeted treatment and prognosis.
Purpose of the Study:
- To assess the clinical utility of next-generation sequencing (NGS) for diagnosing Mendelian genetic causes in pediatric epilepsy.
- To identify predictors for positive genetic testing results in this population.
Main Methods:
- A cohort of 210 children with unexplained epilepsy underwent NGS testing.
- Demographic, clinical, and genetic data were analyzed.
- Logistic regression identified predictors for Mendelian genetic causes.
Main Results:
- The overall diagnostic yield of NGS was 29.0%.
- Syndromic epilepsy (39.3%) and epileptic encephalopathy showed higher diagnostic yields compared to isolated epilepsy (10.7%).
- Predictors for positive genetic findings included syndromic epilepsy, epileptic encephalopathy, seizure onset before 12 months, and female sex.
Conclusions:
- NGS is a valuable tool for diagnosing Mendelian genetic etiologies in unexplained pediatric epilepsy.
- Female sex, syndromic epilepsy, and early seizure onset are associated with a higher likelihood of a positive genetic diagnosis.
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