Epilepsy is a common chronic neurological problem with a prevalence rate of 6.5 per 1,000 in Saudi Arabia. In the field of epilepsy genetics, the rapid pace of gene discovery has resulted in exciting advances. Clinical testing using comprehensive gene panels, exomes, or genomes is becoming more widely available, resulting in a higher diagnostic yield in early-onset epilepsies and enabling precision medicine approaches. The genetic screening techniques include comparative genomic hybridization, single-gene testing, chromosomal analysis, epilepsy panel testing, whole-exome sequencing (WES), and whole-genome sequencing. It is essential to know the classification of genetic epilepsies to choose the appropriate genetic test for its differential diagnosis. Although there have been various classifications reported by different groups, the most acceptable one is to classify them based on type of epilepsy, type of gene involvement, and age of onset of epilepsy. The diagnosis of genetic epilepsies helps the treating physician determine the prognosis, select the appropriate medications, and avoid certain medications that may exacerbate epilepsy. In Saudi Arabia, recently genetic tests have been made available in many centers. Various research groups have discovered and reported a wide range of genes, especially pediatric neurologists, geneticists, and neurogenetics across the Kingdom. The availability of WES due to its cost-effective nature is another reason for the advancement in epilepsy screening in the Kingdom. The present review aims to discuss the genetic testing of epilepsy, classification of genetic epilepsies, epilepsy genetics in Saudi Arabia, and the future of epilepsy genetics in Saudi Arabia.
Keywords: Genetic epilepsy, epilepsy classification, Genomic hybridization microarray, Saudi Arabia, Next generation sequencing, BFNIE, BFIE
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