Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases.

Early infantile epileptic encephalopathy type 13 is a severe form of epilepsy caused by mutations in the sodium channel 8 alpha (SCN8A) gene. This gene encodes the neuronal voltage-gated sodium channel which plays vital role in neuronal excitability. Here we present two cases with SCN8A encephalopathy. Both cases had mutation in p.Arg1872Gin the SCN8A gene, which was detected by targeted next generation sequencing. Case 1 was a 14-month old boy, who had a normal birth history with normal development up to 6 months and then developed repeated generalized seizure, which was nonresponsive to multiple antiepileptic drugs. He also had neuroregression and dystonia. His electroencephalogram (EEG) showed progressive background abnormality with burst suppression pattern. His metabolic panel was normal and had partial response to carbamazepine. The second case was for an 11-month old boy with the onset of seizure at the age of 7 months. Seizure was generalized, resistant to multiple antiepileptic drugs. He had developmental delay from beginning, no movement disorder. EEG showed focal discharge from left temporal and occipital region. He showed partial response to oxcarbazepine. Our cases had similarities with the previously reported cases. The detailed discussion of our cases would contribute to early detection and targeted treatment of SCN8A encephalopathy. This also gives special emphasis on a genetic test in infants with intractable epilepsy, movement disorder and developmental delay.