Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree

被引:4
作者
Cai, Chunquan [1 ,2 ]
Shi, Ouyan [3 ]
Li, Wei-Dong [4 ]
机构
[1] Tianjin Childrens Hosp, Dept Surg, Tianjin 300074, Peoples R China
[2] Tianjin Med Univ, Inst Pediat Clin, Tianjin 300074, Peoples R China
[3] Tianjin Med Univ, Sch Basic Med Sci, Tianjin 300070, Peoples R China
[4] Tianjin Med Univ, Res Ctr Basic Med Sci, Tianjin 300070, Peoples R China
关键词
Paroxysmal kinesigenic dyskinesia; Infantile convulsions; Pro line-rich transmembrane protein 2; Missense mutations; PRRT2;
D O I
10.1016/j.parkreldis.2012.08.014
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:402 / 403
页数:2
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