Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Erfan ZakerNegar NouriMojtaba MovahediniaAli DadbinpourMohammad Yahya Vahidi MehrjardiPublished in: Molecular genetics & genomic medicine (2024)
The patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in the ARX gene, emphasizing the role of genetic testing in EIEE diagnosis.