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

Liou Tang, Binghui Hou, Xiaona Zhang, Zhao-Yan Xi, Chunxiao Li, Lin Xu

2020Brain and Development14 citationsDOI

Topics & Concepts

Paroxysmal dyskinesiaMedicineCompound heterozygosityMissense mutationEpilepsyMutationMovement disordersDyskinesiaPathologyGeneticsBiologyDiseaseGenePsychiatryParkinson's diseaseThyroid and Parathyroid SurgeryDermatological and Skeletal DisordersParathyroid Disorders and Treatments
Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions | Litcius