Next-generation technology in epilepsy diagnostic: First Moroccan pediatric case series and literature review.

Abstract

Background: Pediatric epilepsy is the most prevalent neurological disorder among children, characterized by significant heterogeneity in terms of etiology, clinical presentation, and prognosis. In developed countries, genetic testing, particularly next-generation sequencing (NGS), has become standard practice for diagnosis. Methods/Observation: This paper presents the first pediatric Moroccan case series with epilepsy. The diagnosis was established using whole-exome sequencing which identified five variants. Moreover, we evaluated the effectiveness of different NGS technologies in epilepsy diagnosis by conducting a PubMed search with targeted keywords. Results: Whole-exome sequencing and whole-genome sequencing are more effective for epilepsy diagnosis than multi-gene panels. However, they also present significant challenges including false negatives and variants of unknown significance which complicate genetic interpretation and diagnostic process. Conclusion: Despite these limitations, the rapid accumulation of genetic data and advancements in bioinformatic tools are expected to address these issues, improving diagnostic accuracy. Keywords: Epilepsy, Next-generation sequencing, Neuropediatry, Genetics, Morocco.