A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion
Joint Authors
Baldi, Salem
Zhu, Jin-Ling
Hu, Qing-Yun
Wang, Ju-Li
Zhang, Jin-Bo
Zhang, Shu-Hong
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-18
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
PRRT2 mutations are the major causative agent of paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC).
The study is aimed at screening PRRT2 gene mutations in patients who suffered from PKD/IC in Chinese population.
Thirteen Chinese patients with PKD/IC were screened randomly for coding exons of the PRRT2 gene mutation along with 50 ethnically coordinated control people.
Nine (2 unaffected) and 4 of the patients showed familial PKD/IC and apparently sporadic cases, respectively.
We identified 5 different PRRT2 mutations in 10 individuals, including 8 familial and 2 apparently sporadic cases.
However, no mutations were found in the 50 ethnically matched controls.
Unknown (novel) NM_145239.2:c.686G>A and previously reported NM_145239.2:c.743G>C variants were identified in two familial and sporadic patients.
All affected members of family A showed mutation NM_145239.2:c.650_670delinsCAATGGTGCCACCACTGGGTTA.
The previously identified NM_145239.2:c.412 C>G and NM_145239.2:c.709G>A variants are seen in two individuals assessed in family B.
Other than the previously identified variants, some of the patients with PRRT2-PKD/IC showed a new PRRT2 substitution variant.
Thus, the spectrum of PRRT2 variants is expanded.
The possible role and probability of PRRT2 variants involved in PKD/IC are highlighted.
American Psychological Association (APA)
Baldi, Salem& Zhu, Jin-Ling& Hu, Qing-Yun& Wang, Ju-Li& Zhang, Jin-Bo& Zhang, Shu-Hong. 2020. A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion. Behavioural Neurology،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1138366
Modern Language Association (MLA)
Baldi, Salem…[et al.]. A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion. Behavioural Neurology No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1138366
American Medical Association (AMA)
Baldi, Salem& Zhu, Jin-Ling& Hu, Qing-Yun& Wang, Ju-Li& Zhang, Jin-Bo& Zhang, Shu-Hong. A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion. Behavioural Neurology. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1138366
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1138366