New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.

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. PMID: 32931186 [PubMed - as supplied by publisher]
Source: Acta Biochim Pol - Category: Biochemistry Authors: Tags: Acta Biochim Pol Source Type: research