Cechy kliniczne i genetyczne epilepsji związanej z mutacjami genu u niemowląt

BACKGROUND AND PURPOSE: , a gene which encodes sodium gated potassium channels, is associated with a spectrum of epilepsies and neurological disorders. This study has been done to overview the phenotype and genotype of related epilepsies in infancy. METHOD: This observational, cross-sectional study was conducted in the Department of Pediatric Neurology, Bangladesh Medical University. Detailed history taking and clinical examinations were done. Electroencephalogram and magnetic resonance imaging of the brain were done in each patient. The classification and description of seizures and epilepsy was done according to the international league against epilepsy guideline. Genetic test was done by targeted next-generation sequencing. RESULT: This study included six patients with developmental epileptic encephalopathy with gene mutation. The children had various types of seizures, mostly focal seizure, focal with bilateral tonic-clonic seizure, epileptic spasm and status epilepticus. Most patients had global developmental delay with normal birth history. In all patients, whole exome sequencing was done and mutation had been found. CONCLUSIONS: This study describes the genotype and phenotype of related epilepsy in infancy.