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

ABSTRACT:

Background

Variants 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.

Methods

We 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 m

SUBMITTER: Zaker E 

PROVIDER: S-EPMC10891437 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature