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

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

Authors

Lijun Wang^{1

2}, Jianfang Ma¹, Xiangqian Che³

Affiliations

¹ Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
² Department of Neurovascular Center, Changhai Hospital, Naval Medical University, Shanghai, 200433, China.
³ Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. [email protected].

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Chorea* / genetics
Dystonia* / genetics
East Asian People
Epilepsy* / complications
Epilepsy* / genetics
Humans
Mutation / genetics
Sodium-Phosphate Cotransporter Proteins, Type III / genetics

Substances

SLC20A2 protein, human
Sodium-Phosphate Cotransporter Proteins, Type III

Supplementary concepts

Familial paroxysmal dystonia

Grants and funding

No.81801045/National Natural Science Foundation of China