Affiliation:
1. Department of Medical Genetics, Faculty of Medicine Shahid Sadoughi University of Medical Sciences Yazd Iran
2. Department of Children Growth Disorder Research Center Shahid Sadoughi University of Medical Sciences Yazd Iran
3. Department of Medical Genetics School of Medicine Shahid Sadoughi University of Medical Sciences Yazd Iran
4. Diabetes Research Center Shahid Sadoughi University of Medical Sciences Yazd Iran
Abstract
AbstractBackgroundVariants in the Aristaless‐related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X‐linked Ohtahara syndrome or Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early‐onset epileptic encephalopathy with arrested psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes.MethodsWe presented a case report of a 2‐year‐old boy who exhibited symptoms such as microcephaly, seizures, and severe multifocal epileptic abnormalities, and genetic techniques such as autozygosity mapping, Sanger sequencing, and whole‐exome sequencing.ResultsWe confirmed that the patient had the NM_139058.3:c.84C>A; p.(Cys28Ter) mutation in the ARX gene.ConclusionThe 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.