MedicalResearch.com Interview with:
Dr. Ahmad Abou Tayoun, PhD
Clinical Molecular Geneticist
Director of the Genetics Laboratory
Al Jalila Children’s
United Arab Emirates
MedicalResearch.com: What is the background for this study?
Response: In this study, we provide data in favor of using an exome-based testing approach, where parental samples can be readily accessible, for early onset epilepsy patients. The exome test includes all coding genes in the human genome. Although we perform exome sequencing on those patients, we demonstrate that a first tier analysis should include targeted interpretation of ~100 genes strongly associated with the disease. This analysis provides diagnoses in ~11% of the patients. Follow up parental testing on a limited number of patients (n=15) that had inconclusive results, revealed de novo (new mutations) variant status, leading to upgrade to positive reports in 7 patients and adding ~5% to the overall diagnostic yield.