HIGHLIGHTS
- who: Fei Yang from the (UNIVERSITY) have published the article: IRF2BPL gene variants with dystonia: one new Chinese case report, in the Journal: (JOURNAL)
- what: IRF2BPL mutation is mainly manifested as seizures in the Chinese population , and the authors report a boy who presented with dystonia.
- future: Studies are needed to elucidate the role of dystonia in IRF2BPL mutation carriers.
SUMMARY
The complete loss and overexpression of interferon regulatory factor 2 binding protein-like (IRF2BPL) are both lethal, while a partial knockdown leads to neurodegeneration. IRF2BPL mutation is mainly . . .
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