Am J Med Genet A. 2025 Nov 4:e64300. doi: 10.1002/ajmg.a.64300. Online ahead of print.
ABSTRACT
With the rapid adoption and increasing use of genetic testing in pediatric neurology, the discovery and characterization of novel pathogenic variants resulting in neurodevelopmental and seizure disorders are becoming more common. One such disorder is EIF4A2-related neurodevelopmental disorder, a recently described disorder with various clinical associations, including developmental delay, epilepsy, and structural brain anomalies. In this case series, we describe two patients with pathogenic EIF4A2 variants, including one of the first detailed reports of a patient with EIF4A2 mosaicism, to add to the growing catalog of genotypic variability in this disorder, as well as a novel phenotypic finding of absent cochlear nerve. Both cases presented here involve patients who developed subtle, initially electrographically negative, epileptic spasms before going on to develop characteristic findings of infantile spasms requiring hormonal treatment. Together, these cases provide valuable information to guide future management of patients with EIF4A2-related disorder.
PMID:41186122 | DOI:10.1002/ajmg.a.64300
