Article
De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Nov 2021
Song Zhenfeng, Zhang Ying, Yang Chengqing, Yi Zhi, Li Fei, Xue Jiao, Yang Xiaofan, Li Baomin
Abstract excerpt
Variants in HNRNPU have been reported in patients with epileptic encephalopathy, early infantile 54 (OMIM 602,869). We hereby describe two children from different families with autosomal dominance early-onset epileptic encephalopathy and summarize the genotype and phenotype of reported individuals. Whole-exome sequencing analysis was applied to the patients. De novo frameshift variants in the HNRNPU,...
Topics
- Child, Preschool
- Female
- Frameshift Mutation
- Genotype
- Heterogeneous-Nuclear Ribonucleoprotein U
- Humans
- Infant
- Phenotype
- Spasms, Infantile