A Study of the Clinical and Genetic Aspects of Familial Epilepsy

Epilepsies are very ancient diseases and the most widespread neurological diseases in the world. They are common conditions that constitute a heterogeneous group from an etiological perspective and, to this day, represent a source of tension between magical and scientific concepts, between superstitious beliefs and rational explanations. Most cases are multifactorial pathologies whose determinism involves environmental and genetic factors, which depend on the epilepsy group considered. The lack of genetic data on this disease in Lubumbashi prompted us to conduct a study on the clinical and genetic aspects of familial epilepsy in Lubumbashi. This study included patients aged 40 years or less who were diagnosed with epilepsy and had a family history of the disease. We performed a stratified probabilistic sampling, which allowed us to collect 72 families. In the first phase, these families were subjected to a cross-sectional analytical study, which led us to find a prevalence of 11.23% for familial epilepsy in Lubumbashi, with a mean patient age of 15.24 years ± 11.03 years and a sex ratio of 1.32 favoring the male sex. Generalized seizures were present in 70.83% of cases and absence seizures in 8.33%. The EEG showed paroxysmal grapho-elements in 35.75% and was normal in 27.78%. Epilepsy was transmitted in an autosomal dominant manner in 41.67% and in a recessive manner in 33.33% and no cases of consanguinity were noted. Five families were subjected to a second phase, a matched case-control study with whole-exome sequencing, which allowed us to highlight genetic variants/mutations. The sequencing data from our study indicated that genetic variants with good phenotype-genetic concordance according to ACMD criteria in cases of idiopathic epilepsy with generalized tonic-clonic seizures are: ATP2B1, SCN3A. The genetic mutations in cases of absence seizures are: CACNA1, NPRL2.