Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants.

ABSTRACT: 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.

SUBMITTER: Horovitz DDG 

PROVIDER: S-EPMC10280516 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature