Article
Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.
American journal of medical genetics. Part A - 1 Jul 2026
von Quednow Enzo, Bragado López Sara, Martínez González Marta, Carrascosa-Romero María-Carmen
Abstract excerpt
We describe a male child with a de novo IRF2BPL c.2152del (p.Cys718Alafs*49) frameshift variant presenting with early-onset NEDAMSS and West Syndrome, and compare this phenotype with two previously reported cases carrying the same variant. This is the third report of this specific variant and the first to include a comparative phenotypic analysis, highlighting a potentially consistent and severe clinical pattern....
Topics
- Humans
- Male
- Phenotype
- Spasms, Infantile
- Infant
- Frameshift Mutation
- Magnetic Resonance Imaging
- Brain
- Exome Sequencing
- Electroencephalography