Cervical Dystonia as the Initial Symptom of IRF2BPL-related Disorder: A Case Report

Abstract excerpt

<title>Abstract</title> <p> Background <italic>IRF2BPL</italic> -related disorder ,also known as neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, NEDAMSS, is a rare neurogenetic disorder. It typically presents with developmental delay or seizures as the initial symptoms. This report describes a case of <italic>IRF2BPL</italic> mutation with cervical dystonia as t...

Topics

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• Carrier Proteins
• Dystonia
• Dystonic Disorders
• East Asian People
• Language
• Mutation
• Nuclear Proteins
• Seizures

Identifiers and source

Literature Corpus work

3ff4f066-c0fd-55a5-9528-268235257d18

DOI

10.21203/rs.3.rs-7319210/v1