Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions-Reference-Cited by-同舟云学术

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

Published:2021-02 Issue:2 Volume:43 Page:331-336
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Tang Li-Ou,Hou Bing-Hui,Zhang Xiao-Na,Xi Zhao-Yan,Li Chun-Xiao,Xu Lin

Funder

CAAE Research Funding on Precision Medicine

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

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3. Murine placental-fetal phosphate dyshomeostasis caused by an xpr1 deficiency accelerates placental calcification and restricts fetal growth in late gestation;Xu;J Bone Miner Res,2020

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1. The Genetics of Primary Familial Brain Calcification: A Literature Review;International Journal of Molecular Sciences;2023-06-29

2. The Pathology of Primary Familial Brain Calcification: Implications for Treatment;Neuroscience Bulletin;2022-12-05

3. A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification;Parkinsonism & Related Disorders;2021-11

4. Genetic updates on paroxysmal dyskinesias;Journal of Neural Transmission;2021-04