Genetyka epilepsji w Afryce: przegląd badań naukowych
Epilepsy genetics in Africa: a systematic review
W skrócie
Naukowcy przeanalizowali 78 badań z 12 krajów afrykańskich, aby zrozumieć, jakie geny powodują epilepsję u Afrykanów. Znaleźli 165 różnych genów odpowiedzialnych za epilepsję, przy czym większość wariantów genetycznych była unikalna dla poszczególnych rodzin lub krajów, a około 76% pacjentów miało potwierdzony problem genetyczny. Badanie pokazuje, że epilepsja w Afryce ma bardzo różnorodne przyczyny genetyczne, ale wiele krajów afrykańskich wciąż nie ma dostępu do testów genetycznych, dlatego wiele przypadków pozostaje niezdiagnozowanych.
Oryginalny abstract (angielski)
BACKGROUND: While our understanding of genetic epilepsies is growing, data from Africa remain scant. In this study, we reviewed the profile of epilepsy genetics in Africa. METHODS: We searched for studies in PubMed, Scopus, Google Scholar, and African Journals Online up to December 2025 using a combination of terms related to "epilepsy", "genetics", and "Africa", and extracted data including phenotype and genetic diagnostics. RESULTS: Seventy-eight studies from 12 countries met our criteria, encompassing 1,858 individuals (1,339 unaffected, 519 affected) from 384 families. The vast majority of families were reported from three countries, Egypt (144/384, 37.5%), South Africa (76/384, 19.8%), and Morocco (60/384, 15.6%). Generalized epilepsy was the most common presentation (30.5%), followed by focal (18.5%), and unspecified (10.4%). Exome sequencing was used in 71.8% of studies and functional validation was performed in 17.9% of studies (n = 14/78), including cell-based models (12.8%, n = 10/78) and animal models (5.1%, n = 4/78). A total of 165 unique diagnostic genes were reported. Genetic heterogeneity was high, with only 12 genes shared across three or more countries. Of the 384 families, 76.3% (n = 293/384) had pathogenic or likely pathogenic variants, with the remaining 23.7% (n = 91/384) having VUSs in genes consistent with the seizure phenotype. Six founder variants accounted for 10.7% of the families, 62.0% of variants were novel at the time of reporting, and 67.8% were classified as pathogenic or likely pathogenic. Consanguinity was 45.6% with autosomal recessive the most common inheritance pattern (49.5%). CONCLUSION: This study highlights substantial clinical and genetic heterogeneity of epilepsy in Africa with population-specific founder variants. Notably, only a limited number of African countries (12/54) have published on molecular diagnostics for epilepsy. The data suggest the potential for significant discoveries yet to be made but also point to ongoing disparities in the availability of genomic testing.