New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.
New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.
M. Alagoz,Nasim Kherad,S. Bozkurt,A. Yuksel
2020 · DOI: 10.18388/abp.2020_5364
Acta Biochimica Polonica · 8 Citations
TLDR
The findings implicate the genotype-phenotype correlation of these mutations and show their effect on protein binding site and function suggesting their role in the development of early infantile epileptic encephalopathy 57.
Abstract
PURPOSE
Early infantile epileptic encephalopathy (EIEE) 57 belongs to a group of encephalopathies with early-onset and characterised by severe electroencephalogram abnormalities, seizures, developmental delay and intellectual disability.METHOD
We carried out Whole Exome analysis using Next Generation Sequencing (NGS) and bioinformatic analysis performed to find mutation associated with the patient phenotypes. The effect of the mutation on protein structure analysed by PolyPhen2 and Swissmodel ExPASy.RESULTS
In this study, we evaluated two unrelated Turkish males diagnosed with EIEE type 57 to investigate the genetic cause of this disease. Whole exome sequencing revealed mutations in KCN2 gene, which is a member of Potassium channels (KCN) gene family associated with epileptic encephalopathies. Two mutations, c.545A>T (p.Asn182Ile and c.2638C>A (p.Leu880Met) were reported here as a novel mutation.CONCLUSIONS
Our findings implicate the genotype-phenotype correlation of these mutations. Furthermore, the computational analysis showed their effect on protein binding site and function suggesting their role in the development of early infantile epileptic encephalopathy 57.