A novel de novo QRICH1 variant causing Ververi–Brady syndrome with infantile epileptic spasms syndrome: clinical and genetic analysis

ObjectiveThis study aims to investigate the clinical phenotype and genetic etiology of a case of Ververi–Brady syndrome (VBS) with infantile epileptic spasms syndrome (IESS) caused by a novel de novo variant in the QRICH1 gene.MethodsClinical data were retrospectively collected from a pediatric patient admitted to Hunan Children’s Hospital on July 28, 2025, due to intermittent nodding episodes for 10 days. Trio-based whole-exome sequencing (trio-WES) was performed for the proband and his parents