Article

A 350 kb <em>NEXMIF </em>Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome

2026-03-26

Abstract excerpt

Pathogenic variants in the NEXMIF gene have been linked to a broad neurodevelopmental phenotype, encompassing autism spectrum disorder, intellectual disability, and epilepsy. Among epileptic manifestations, Jeavons Syndrome was observed in 24% of affected females in the largest cohort of NEXMIF-related disorders reported to date, but long-term adult outcomes remain poorly documented. We report a 25-year-old Italia...

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Literature Corpus work: 1828b040-dadc-5e57-a755-392e72decdfc
DOI: 10.20944/preprints202603.2182.v1

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