The next generation sequencing among epileptic children in Erbil city, Kurdistan region, Iraq

Talib Adil Abdulqadir; Azad  Anwar Hamad

doi:10.15218/zjms.2023.036

Authors

Talib Adil Abdulqadir Department of Pediatrics, College of Medicine, Hawler Medical University, Erbil, Iraq.
Azad Anwar Hamad Department of Medicine, College of Medicine, Hawler Medical University, Erbil, Iraq.

DOI:

https://doi.org/10.15218/zjms.2023.036

Keywords:

Pathogenic, Likely pathogenic, Diagnostic yield

Abstract

Background and objective: Causes of epilepsy are different and the genetic component is hidden and provides an essential role in emergence of drug resist epilepsy .The aim of this study is to know the diagnostic yield of Whole exome sequence in pediatric epilepsy and its contribution in giving information about diagnosis of the epilepsy syndrome, possible preventive actions or treatment.

Methods: 60 children (6 weeks - 14 year) with drug resistant epilepsy, family history of epilepsy or child with diagnosis of epilepsy syndrome were enrolled in this cross sectional study. The study was done in Raparin pediatric teaching hospital in Erbil city from beginning of May 2021 to the end of April 2022.Demographic, clinical, MRI finding and genetic background using whole exome sequence were checked and analyzed.

Results: 33/60 (55%) of participants were male. The NGS (Next Generation sequence) study revealed: 13 (21%) pathogenic, 10 (17%) likely pathogenic, 21 (35%) variance of unknown significance and 16 (27%) negative result. The diagnostic yield by NGS for pathogenic or likely pathogenic is 38%. The positive findings were more relevant among female (P value = 0.04), children with age onset of seizure≤ 1 year of (P value = 001) and history of lack of sleep (P value = 0.02). Genetic diagnosis lead to change of treatment in 11/60 (18.3%) candidates.

Conclusion: The diagnostic genetic test by NGS is relevant in epileptic child especially among children with age of onset of seizure ≤ 1 year, female sex, and lack of sleep. It is recommended to test the negative result periodically and more research to investigate impact of NGS on seizure freedom.

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