Article
IRF2BPL gene variants with dystonia: one new Chinese case report.
BMC neurology - 21 Jan 2023
Yang Fei, Li Hui, Dai Yi, Zhang Ran, Zhang Jiang-Tao
Abstract excerpt
BACKGROUND: The carriers of damaging heterozygous variants in interferon regulatory factor 2 binding protein-like (IRF2BPL), encoding a member of the IRF2BP family of transcriptional regulators, may be affected by a variety of neurological symptoms, such as neurodevelopmental regression, language and motor developmental delay, seizures, progressive ataxia and a lack of coordination, and even dystonia. CASE...
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