Associated Papers
Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40970454 (PubMed )
Supplement: supplement_1.pdf
Synergistic activation of the human phosphate exporter XPR1 by KIDINS220 and inositol pyrophosphate.
Zuo P et al.
Nature Communications, 2025
40128258 (PubMed )
Supplement: 41467_2025_58200_MOESM1_ESM.pdf
Transport and InsP8 gating mechanisms of the human inorganic phosphate exporter XPR1.
Zhu Q et al.
Nature Communications, 2025
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions.
Tang LO et al.
Brain & Development, 2021
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