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Article

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

Acta biochimica Polonica - 15 Sept 2020

Alagoz Meryem, Kherad Nasim, Bozkurt Sureyya, Yuksel Adnan

Abstract excerpt

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....

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PMID: 32931186
DOI: 10.18388/abp.2020_5364

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