CLINICAL APPLICATION OF EPILEPSY GENETICS IN AFRICA: IS NOW THE TIME?
- 1Department of Pathology, University of Cape Town, South Africa
- 2National Health Laboratory Service, South Africa
- 3Feinberg School of Medicine, Northwestern University, United States
- 4Centre for Geographic Medicine Research-Coast, KEMRI-Wellcome Trust Research Programme, Kenya
- 5Department of Psychiatry, University of Oxford, United Kingdom
- 6Department of Neurology, Harvard Medical School, United States
- 7School of Child and Adolescent Health, University of Cape Town, South Africa
- 8Paediatric Neurology and Neurophysiology, Red Cross War Memorial Children’s Hospital, South Africa
Over 80% of people with epilepsy live in low-to-middle-income countries where epilepsy is often undiagnosed and untreated due to limited resources and poor infrastructure. In Africa, the burden of epilepsy is exacerbated by increased risk factors such as central nervous system infections, perinatal insults and traumatic brain injury. Despite the high incidence of these aetiologies, the cause of epilepsy in over 60% of African children is unknown, suggesting a possible genetic origin. Large-scale genetic and genomic research in Europe and North America has revealed new genes and variants underlying disease in a range of epilepsy phenotypes. The relevance of this knowledge to patient care is especially evident among infants with early onset epilepsies, where early genetic testing can confirm the diagnosis and direct treatment, potentially improving prognosis and quality of life. In Africa however, genetic epilepsies, are among the most under-investigated neurological disorders and little knowledge currently exists on the genetics of epilepsy among African patients. The increased diversity on the continent may yield unique, important epilepsy-associated genotypes, currently absent from the North American or European diagnostic testing protocols. In this review, we propose that there is strong justification for developing the capacity to offer genetic testing for children with epilepsy in Africa, informed mostly by the existing counselling and interventional needs. Initial simple protocols involving well-recognised epilepsy genes will not only help patients but will give rise to further clinically relevant research, thus increasing knowledge and capacity.
Keywords: Low-to-middle-income countries (LMICs), Genetic Testing, Seizures, sub-Saharan Africa, Genetic epilepsy, early-life epilepsy
Received: 06 Feb 2018;
Accepted: 09 Apr 2018.
Edited by:Patrick Kwan, Van Cleef Roet Centre for Nervous Diseases, Monash University, Australia
Copyright: © 2018 Esterhuizen, Carvill, Ramesar, Kariuki, Newton, Poduri and Wilmshurst. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Prof. Jo M. Wilmshurst, MBBS, MD, MRCP (LONDON), FCPAED(SA)., University of Cape Town, School of Child and Adolescent Health, Cape Town, Western Cape, South Africa, firstname.lastname@example.org