Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL

Many studies have recently found that the interferon regulatory factor 2 binding protein-like (IRF2BPL, MIM: 611720) gene with de novo truncating mutations is responsible for neurodevelopmental disorders [1 –8]. Additionally, the mutations in IRF2BPL cause variable neurological phenotypes, such as neurodevelopmental regression, cerebellar ataxia, loss of motor skills, and intractable epilepsy. The pathogenic mechanism of the IRF2BPL gene mutation, however, has not been clarified thus far. IRF2BPL is also known as enhanced at puberty 1 (EAP1) and was first identified by Rampazzo et al.

Source: Seizure: European Journal of Epilepsy - November 18, 2020 Category: Neurology Authors: Xiao-hang Qian, Xiao-ying Liu, Ze-yu Zhu, Shi-ge Wang, Xiao-xuan Song, Guang Chen, Jing-ying Wu, Hui-dong Tang, Li Cao Source Type: research