The Sahel Epilepsy Epidemiology and Genomics Study (SEEG)

Vanderbilt University Medical Center, Nashville TN

Investigators

Abstract

The 2022 Intersectoral Global Action Plan on Epilepsy (IGAP) established goals: by 2031 among the world’s people with epilepsy (1) 90% will know their diagnosis, (2) 80% will have anti-seizure medication (ASM) access, (3) 70% will achieve seizure control. At least 80% of the world’s people with epilepsy live in low- and middle-income countries (LMICs), such as those in Africa where epilepsy prevalence estimates vary (< 7 to > 70 per 1000), often with substandard methods, and where epilepsy diagnosis and treatment gaps are 60%-96%. Primary prevention of epilepsy is urgently needed in Africa’s LMICs where millions of people with epilepsy are untreated. Yet in Africa there are few epilepsy incidence studies, and few studies of modifiable risk factors for epilepsy across the lifespan, and even fewer studies of genetic risk factors for epilepsy. The Sahel Epilepsy Epidemiology and Genomics Study (SEEG) is a rural community-based study of epilepsy epidemiology across the lifespan, with case-control studies of potentially modifiable epilepsy risk factors, and genome-wide association studies (GWAS) to identify genetic modifiers of epilepsy risk. Using a previously validated epilepsy screening and seizure classification tool in English and the local language (Hausa), door-to-door epilepsy screening will be conducted by epilepsy-trained community health workers (CHWs) in malaria endemic rural Tudun Wada local government area, Kano state, Nigeria. In Year #1, 40,000-75,000 people will undergo epilepsy screening; people who screen positive for epilepsy will undergo clinical evaluations including electroencephalograms (EEG) using a point-of-care EEG-video system, with age- and gender-specific prevalence determination. The same GPS-located households screened in Year #1 will be screened again in Year #2 and again in Year #3 to identify new-onset epilepsy (incident cases) for determination of age- and gender-specific incidence rates. Among those diagnosed with epilepsy, the first 1000 people ages 6 months and older who provide consent will be enrolled in case-control studies and GWAS studies. About 1500 people (500 children, 1000 adults) who screened negative for epilepsy, and who have no evidence of epilepsy on clinical evaluation, including EEG, will be enrolled as controls in case-control studies of potential risk factors for potentially modifiable risk factors for epilepsy, including prior head trauma with loss of consciousness, HIV, history of cerebral malaria, and IgG evidence of prior parasitic infections (e.g., onchocerciasis, echinococcus, schistosomiasis). GWAS, with adult controls (> 30 years) from the local community to determine genomic modifiers of epilepsy risk among people with malaria, onchocerciasis and other common parasitic diseases will be conducted. SEEG will provide valuable insights into epilepsy epidemiology and genomics in the Sahel region of Africa and establish a valuable resource for the study of epilepsy epidemiology and genomics.