A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis-

Akihiko Mitsutake,Takashi Matsukawa,Kristine Joyce L. Porto,Tatsuya Sato,Junko Katsumata,Tomonari Seki,Risa Maekawa,Takuto Hideyama,Masaki Tanaka,Hiroyuki Ishiura,Tatsushi Toda,Shoji Tsuji,Yasushi Shiio

JOURNAL OF THE NEUROLOGICAL SCIENCES（2020）

引用 0|浏览4

暂无评分

摘要

•A Japanese family with primary familial brain calcification is described.•They presented with paroxysmal kinesigenic dyskinesia (PKD).•Exonic deletion of SLC20A2 was detected.•Heterozygous rare variants were also detected in SCN4A.•PKD is likely related to PFBC, but might be in part caused by SCN4A variants.

查看译文

关键词

Primary familial brain calcification,Fahr's disease,Paroxysmal kinesigenic dystonia,Movement disorders,Dyskinesia

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要