New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review
Yükleniyor...
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
EIEE, Encephalopathy, Seizure, NGS, KCNT2 gene, Epileptic
Kaynak
Acta Biochim Pol
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
67
Sayı
3
Künye
Alagoz, M., Kherad, N., Bozkurt, S., & Yuksel, A. (2020). New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review. Acta Biochimica Polonica.
