Gene Panel Testing in children with Early Onset Epileptic Encephalopathies : A study in a Tertiary car center in Bangladesh

Background: Early onset epileptic encephalpathies (EOEE) are severe form of epilepsy where there is intractable epilepsy along with psychomotor impairment. The etiology is diverse namely structural disorder of brain, neurometabolic, neurocutaneous and genetic disorders. Genetic disorders are important yet underdiagnosed etiology of EOEE. The objective of this study was to determine the pattern of genetic mutation causing EOEE. Methodology: This study was done in the Department of Pediatric Neurology, Institute of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University. It was an observational cross sectional study. Here children under 24 months, who have EOEE (without any structural/metabolic/neurocutaneous/vitamin responsive seizure) was taken as participants. Study time was July 2020 to June 2021. Detailed history taking and clinical examination was done. In each patient, EEG and neuroimaging was done. Genetic test was done by targeted next generation sequencing (NGS) . Result: Data of total 41 patients were analyzed. Generalized seizure was the predominant type of seizure. Male predominance was observed in the studied subjects. Regarding the association, cognitive delay and motor delay were common. In the cases, most common pathogenic mutations observed were SCN1A , SCN8A , SLC1A2 , KCNT1 , CDKL5 etc.

Conclusions: This study will highlight the pattern of genetic mutation in EOEE which has never been done Bangladesh. Thus it would help to select target oriented medicine/precision medicine in this devastating form of epilepsy and also would help in the genetic counseling
Keywords: Early Onset Epileptic Encephalopathies, Gene Panel