February 3, 2023

February 2023: Diagnosing genetic developmental and epileptic encephalopathies in Africa

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Epilepsy is one of the most common neurological diseases, with more than 50 million people affected worldwide and Sub-Saharan Africa carries the highest burden of the disease. However, most of the research on epilepsy, and the genetic variants that lead to developmental and epileptic encephalopathies, has been conducted in wealthier, resource-rich regions. So, a team of researchers recently conducted a study on children in South Africa whose phenotypic profile suggested there could be a genetic component; the results of that study, as well as the recommendations that arose from it, were recently published in the journal Genetics in Medicine. Jo Wilmshurst, MD, child neurologist at Red Cross War Memorial Children’s Hospital and a professor at the University of Cape Town, and Gemma Carvill, PhD, geneticist and assistant professor at Northwestern University in the department of neurology, joined GenePod to discuss the results of the study and the implications for care in a resource-limited setting.