Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions

Tang, LO; Hou, BH; Zhang, XN; Xi, ZY; Li, CX; Xu, L

Xu, L (corresponding author), Qingdao Univ, Affiliated Hosp, Dept Neurol, JiangSu Rd 16, Qingdao, Peoples R China.

BRAIN & DEVELOPMENT, 2021; 43 (2): 331

Abstract

Background: Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inher......

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