Abstract:
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 etiologies, 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 counseling and
interventional needs. Initial simple protocols involving well-recognized epilepsy genes
will not only help patients but will give rise to further clinically relevant research, thus
increasing knowledge and capacity.