Two cases of epilepsy without periventricular nodules caused by the ARF1 gene mutation and literature review
A retrospective analysis was made on the clinical data and gene mutation characteristics of 2 children admitted to the Children's Hospital of Zhejiang University School of Medicine for epilepsy without periventricular nodules caused by the ARF1 gene mutation from August 2023 to February 2024,and relevant literature was reviewed.Both patients presented with seizures and psychomotor retardation,and 1 of them was diagnosed with West syndrome.Whole exome sequencing confirmed that the 2 patients carried a missense mutation in the ARF1 gene(c.55C＞A,p.R19S).Brain magnetic resonance imaging(MRI)of 2 patients revealed no obvious abnormalities.A summary analysis of 5 cases of ARF1 gene mutations reported in three foreign literatures showed that patients with ARF1 gene mutations usually presented with seizures,developmental delay,hypotonia,mental retardation,and motor stereotypies.MRI showed periventricular nodular heterotopia,corpus callosum dysplasia,subcortical white matter abnormalities,and delayed myelination.This study found for the first time that ARF1-related disorders can occur without significant brain structural malformations,indicating that there are inconsistencies in neuroimaging findings,adding valuable phenotypic information to this gene.The differences in imaging findings may be the result of genetic background or variation in ARF1-interacting proteins,or may be caused by altered regulatory mechanisms of protein activity.
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