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[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].

Authors
  • Yang, Xiaoling
  • Zhang, Yuehua
  • Xu, Xiaojing
  • Wang, Shuang
  • Yang, Zhixian
  • Wu, Ye
  • Zhang, Xiuju
  • Liu, Xiaoyan
  • Wu, Xiru
Type
Published Article
Journal
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Publication Date
Dec 01, 2014
Volume
31
Issue
6
Pages
679–685
Identifiers
DOI: 10.3760/cma.j.issn.1003-9406.2014.06.001
PMID: 25449067
Source
Medline
License
Unknown

Abstract

The phenotype of PKD in ICCA families occurred in childhood or adolescence. Few affected members in some ICCA families may have migraine. PRRT2 is the causative gene of ICCA and the mutation c.649_650insC was the hotspot of PRRT2 mutations. PRRT2 mutation was also found in sporadic case with ICCA.

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