Molecular Genetics & Genomic Medicine · 5 authors, 4 centres
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This case report describes a 2-year-old boy with severe early-onset epileptic encephalopathy, microcephaly, and EEG abnormalities. Genetic testing identified a specific mutation in the ARX gene, confirming a diagnosis of Type 1 early infantile epileptic encephalopathy.
The study presents a case report of a 2-year-old boy from a consanguineous family with a history of a similar condition. The patient exhibited microcephaly, cataracts, seizures, severe multifocal epileptic abnormalities on EEG, and dysmyelination. Genetic analysis using whole-exome sequencing and Sanger sequencing identified a homozygous stop-gained mutation [NM_139058.3]:c.84C>A; p.(Cys28Ter) in the ARX gene. A novel finding in this case was decreased activity of 3-PHGDH enzyme and low CSF serine and glycine levels, which are not previously reported features of EIEE1. The study emphasizes the diagnostic role of genetic testing but is limited as a single-case report, with implications for genetic counseling and potential phenotypic expansion of ARX-related disorders.
