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A novel SLC20A2 mutation presenting with paroxysmal kinesigenic dyskinesia and epilepsy in a Chinese patient: a case report.

作者信息

Wang Lijun, Ma Jianfang, Che Xiangqian

机构信息

Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.

Department of Neurovascular Center, Changhai Hospital, Naval Medical University, Shanghai, 200433, China.

出版信息

Acta Neurol Belg. 2023 Dec;123(6):2379-2382. doi: 10.1007/s13760-023-02182-5. Epub 2023 Jan 26.

DOI:10.1007/s13760-023-02182-5
PMID:36701080
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10682148/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa16/10682148/94ac75faf503/13760_2023_2182_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa16/10682148/5fe6ab1f985b/13760_2023_2182_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa16/10682148/94ac75faf503/13760_2023_2182_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa16/10682148/5fe6ab1f985b/13760_2023_2182_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa16/10682148/94ac75faf503/13760_2023_2182_Fig2_HTML.jpg

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本文引用的文献

1
Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.家族性脑钙化症以发作性运动诱发性运动障碍为表现：遗传学和功能分析。
Neurosci Lett. 2020 Jan 1;714:134543. doi: 10.1016/j.neulet.2019.134543. Epub 2019 Oct 13.
2
Refractory focal epilepsy in a paediatric patient with primary familial brain calcification.儿童原发性家族性脑钙化致难治性局灶性癫痫
Seizure. 2018 Mar;56:50-52. doi: 10.1016/j.seizure.2018.02.001. Epub 2018 Feb 6.
3
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
一个患有基底神经节钙化且SLC20A2和CHRNB2基因发生突变的家族中的全身性癫痫。
Eur J Med Genet. 2015 Nov;58(11):624-8. doi: 10.1016/j.ejmg.2015.10.005. Epub 2015 Oct 19.
4
[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene].[SLC20A2基因新突变所致家族性特发性基底节钙化的临床特征]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):64-8. doi: 10.3760/cma.j.issn.1003-9406.2015.01.014.
5
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.SLC20A2 基因突变与家族性特发性基底节钙化和磷稳态相关。
Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.