PRRT2 Gene Analysis of Paroxysmal Kinesigenic Dyskinesia (PKD) in Thai Children
Issued Date
2022-07-01
Resource Type
ISSN
25869981
eISSN
26300559
Scopus ID
2-s2.0-85130295902
Journal Title
Journal of Health Science and Medical Research
Volume
40
Issue
4
Start Page
419
End Page
424
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Health Science and Medical Research Vol.40 No.4 (2022) , 419-424
Suggested Citation
Laosuebsakulthai P., Likasitwattanakul S., Pho-Iam T., Thongnoppakhun W., Chanvanichtrakool M. PRRT2 Gene Analysis of Paroxysmal Kinesigenic Dyskinesia (PKD) in Thai Children. Journal of Health Science and Medical Research Vol.40 No.4 (2022) , 419-424. 424. doi:10.31584/jhsmr.2021853 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/85771
Title
PRRT2 Gene Analysis of Paroxysmal Kinesigenic Dyskinesia (PKD) in Thai Children
Author's Affiliation
Other Contributor(s)
Abstract
Objective: To examine the frequency of the proline-rich transmembrane protein-2 (PRRT2) gene mutation in Thai patients with paroxysmal kinesigenic dyskinesia (PKD). Material and Methods: A retrospective study of children aged 0-18 years with a diagnosis of PKD at Siriraj Hospital. The genetic analyses of the PRRT2 gene were done by bidirectional Sanger sequencing. Results: Twelve patients with PKD were included. The known PRRT2 mutation, c.649dupC (p.Arg217Profs*8), was identified in three of the patients (25.0%), one of the nine sporadic cases (11.1%) and two of the three familial cases (66.6%), all from different families. PKD had a complete response to carbamazepine treatment regardless of PRRT2 mutation status. Conclusion: Our study provided the new details of the clinical phenotypes and PRRT2 gene analysis findings for Thai PKD. PRRT2 mutations were identified in our Thai PKD patients with increased detection rates in the familial PKD cases. The c.649dupC (p.Arg217Profs*8) was also found to be a hot-spot mutation in our Thai PKD patients. Furthermore, this study demonstrates the importance of PRRT2 gene analysis in order to properly diagnose and treat these patients.