Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants.
Dafne Dain Gandelman HorovitzMaria Angélica de Faria Domingues de LimaLais de Carvalho PiresAbelardo de Queiroz Campos AraujoFernando Regla VargasPublished in: Journal of central nervous system disease (2023)
IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.