Type 1 early infantile epileptic encephalopathy: A case report and literature review

ConclusionThe patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in theARX gene, emphasizing the role of genetic testing in EIEE diagnosis.

Source: Molecular Genetics & Genomic Medicine - February 24, 2024 Category: Genetics & Stem Cells Authors: Erfan Zaker, Negar Nouri, Mojtaba Movahedinia, Ali Dadbinpour, Mohammad Yahya Vahidi  Mehrjardi Tags: CLINICAL REPORT Source Type: research