Diagnosing Genetic Epilepsy in a Resource-Constrained Setting – the South African experience

ICNC2024
Symposia: The Impact of Genetics In The Care of Patients With Rare Pediatric Epilepsies: Past, Present Future

Diagnosing Genetic Epilepsy in a Resource-Constrained Setting – the South African experience.
Alina Esterhuizen

Sub-Saharan Africa bears the highest burden of epilepsy worldwide. A presumed proportion is genetic, but this aetiology is buried under the burden of infections and perinatal insults, in a setting of limited awareness and few options for testing. Children with developmental and epileptic encephalopathies (DEEs) are most severely affected by this diagnostic gap, as the rate of actionable findings is highest in DEE-associated genes. Here, we provide an overview of our research into the genetic underpinnings of DEEs in South African children, broadly outlining the outcomes of genetic and clinical analyses of 234 previously untested South African children diagnosed with/possible DEE. We used the study findings, coupled with an emphasis on precision medicine outcomes, to propose the pragmatic “Think-Genetics” decision tree for recognition of a possible genetic aetiology and pragmatic testing for DEEs in a resource-constrained healthcare setting. We emphasise the significance of informative findings to the patients in the study and the importance of careful clinical assessment and multidisciplinary consultation. Finaly, we highlight the opportunities for future epilepsy research in Africa, whose great genetic diversity is likely to add new and useful insights for the benefit of people living with epilepsy in Africa and worldwide.

Other Lectures in this symposium
The genetic architecture of the pediatric epilepsies
Mosaic variants detectable in blood extend the clinico-genetic spectrum of GLI3-related Hypothalamic Hamartoma
Epigenetic approaches to epilepsy diagnosis