Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant

Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant

The mental retardation-55 with seizures (MRD55) is a rare genetic disease characterized by developmental delay, intellectual disability, language delay and multiple types of epileptic seizures. It is caused by pathogenic variants of the NUS1 gene, which encodes Nogo-B receptor (NgBR), a necessary su...

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Bibliographic Details
Main Authors: Pingli Zhang, Di Cui, Peiyuan Liao, Xiang Yuan, Nuan Yang, Yuanyuan Zhen, Jing Yang, Qikun Huang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Pediatrics
Subjects:
whole-exome sequencing
NUS1
epilepsy
MRD55
ID
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.725231/full

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