Homozygous SCN2A gene mutation causing early infantile epileptic encephalopathy: The second case in literature

Abstract

Objective: Early infantile epileptic encephalopathy type11 (EIEE) generally known as an autosomal dominant inherited disease caused by the voltage-gated sodium channel neuronal type 2 alpha subunit (Navα1.2) encoded by the SCN2A gene mutations. The clinic of the disease is variable. Herein we report the second case with a homozygous missense mutation of the SCN2A gene (c.1588 G>T).
 Material and methods: NGS gene panel including the SCN2A gene from genomic DNA extracted from peripheral blood using a commercially available kit and quantified using standard methods. Illumina miseq analysis platform was used for this purpose, we performed analysis of coding regions and exon-intron boundaries and the data was analyzed by IGV.
 Results: The results confirmed by sanger sequencing show us an SCN2A (NM_001040142) c.1588 G>T homozygote mutation.
 Conclusion: This shows us more clinical and molecular studies need for SCN2A associated disease pathogenesis