Prevalence Proportion and Clinical Spectrum of Genetic Epilepsy in Children of Bangladesh: A Hospital Based Study

Background: The epilepsies are a group of disorder having heterogeneous etiologies. Genetic epilepsies comprise 40% of all epilepsies. Identification of common genetic epilepsies in childhood period will aid in targeting resources, the prioritization of diagnostic testing and development of precision medicine. Methods and Materials: This prospective study was conducted at Dhaka Medical College Hospital over the period of 24 months. All children diagnosed as a case of epilepsy according to ILAE, children presenting with febrile or afebrile status epilepticus and children having drug resistance epilepsy were included in this study. DNA was extracted from the whole blood of the eligible patients and was tested on a custom designed 121 gene epilepsy panel at the “ Med Genome Labs private Ltd” at Bangalore in India with the help of their partner lab Genetic solutions Bangladesh. Results: Among initial screening of 348 children with epilepsy 180 patients go for genetic study for epilepsy panel where genetic diagnosis were made for 54(30%) children. Among them 48 have single gene disorders, 8 cases had chromosomal microdeletion. Most common single gene disorder from this cohort identified SCN1A, SCN3A, 4 number from each disorders, next common CACNA1D(+) presented among 3 cases, CHD2(+), PAK1(-), TSC2(+) 2 cases from each group. Focal seizure with global developmental delay, epileptic spasm and male with early age of presentations were significantly associated with genetic diagnosis. Conclusions: A great percentage of epilepsy associated with genetic mutation, better understanding of the genetic nature of epilepsy will help to formulate management plan.