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

• Main Authors: Pingli Zhang (Author), Di Cui (Author), Peiyuan Liao (Author), Xiang Yuan (Author), Nuan Yang (Author), Yuanyuan Zhen (Author), Jing Yang (Author), Qikun Huang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...