IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures

被引:20
作者
Ganos, Christos [1 ]
Zittel, Simone [2 ]
Hidding, Ute [2 ]
Funke, Claudia [3 ]
Biskup, Saskia [3 ]
Bhatia, Kailash P. [4 ]
机构
[1] Charite Univ Med Berlin, Dept Neurol, Berlin, Germany
[2] Univ Med Ctr Hamburg Eppendorf, Dept Neurol, Hamburg, Germany
[3] Praxis Humangenet Tubingen, Paul Ehrlich Str 23, D-72076 Tubingen, Germany
[4] UCL, Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England
关键词
Dystonia; Anarthria; Aphonia; IRF2BPL; Seizures;
D O I
10.1016/j.parkreldis.2019.09.020
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:57 / 59
页数:3
相关论文
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