Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Mol Genet Genomic Med
; 12(2): e2412, 2024 Feb.
Article
in En
| MEDLINE
| ID: mdl-38400608
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 mapping, Sanger sequencing, and whole-exome sequencing.RESULTS:
We confirmed that the patient had the NM_139058.3c.84C>A; p.(Cys28Ter) mutation in the ARX gene.CONCLUSION:
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.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Spasms, Infantile
/
Epilepsy
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Mol Genet Genomic Med
/
Mol. genet. genomic med
/
Molecular genetics & genomic medicine
Year:
2024
Type:
Article
Affiliation country:
Iran