A 350 kb NEXMIF Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome
: This case provides a detailed clinical description of an adult patient useful for genetic counseling regarding adult outcomes and prognostic expectations. Furthermore, this study underscores the diagnostic value of chromosomal microarray analysis alongside next-generation sequencing in individuals with intellectual disability and drug-resistant epilepsy, in order to expedite the diagnostic pathway and enable timelier and more appropriate patient management.
Authors
- Orazio Palumbo (ORCID: https://orcid.org/0000-0001-6583-3482)
- Massimo Carella (ORCID: https://orcid.org/0000-0002-6830-6829)
- Marco Castori (ORCID: https://orcid.org/0000-0002-6069-0993)
- M Benvenuto
- Giuseppe d’Orsi (ORCID: https://orcid.org/0000-0002-3465-7540)
- Umberto Costantino (ORCID: https://orcid.org/0000-0003-2325-4137)
Institutions
- Casa Sollievo della Sofferenza (IT)
Publication Details
- Journal
- Genes
- Published
- 2026-04-13
- DOI
- https://doi.org/10.3390/genes17040448
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Ministero della Salute
- Ministry of Health, Uganda