2022, Vol. 5, Issue 1, Part A

Genetic Epilepsy (previously known as idiopathic epilepsy) is a result of a known or presumed genetic defect(s) that is not causative of a brain structural or metabolic disorder.

Objectives: Genetic epilepsy with febrile seizures plus is characterized by multiple febrile seizures and by several subsequent types of afebrile generalized seizures with variable degrees of severity. It has a complex and heterogeneous clinical presentation. Dravet Syndrome (DS) is a catastrophic early-life epilepsy disorder of the GEFS plus spectrum in which the seizures are usually refractory to treatment and are associated with intellectual disability. The detection rate of gene variants has gradually increased, and in addition to providing an accurate diagnosis, elucidating the genetic cause of paediatric-onset drug-resistant epilepsy can also help guide clinical management.

Method: Here, we selected cases with febrile seizures on presentation who later developed epilepsy, and evaluated those using genetic studies.

Results: The genes SCN1A, ADGRV2, GABBR2, and GPR98 as potential causes of GEFS (+) and Dravet syndrome have been highlighted in our report.

Conclusion: An improved understanding of the true physiopathology of genetic epilepsy and the identification of factors that are involved in phenotypic variations, will make it easier to understand genotype-phenotype correlations in the future and help implement individualized precision medical treatment regimens.