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Submitted
November 7, 2022
Accepted
March 7, 2024
Published
May 11, 2025
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Abstract

Paroxysmal dyskinesia (PxD) is a group of disorders which is rare. In this group of primary PxD, PKD is the most common subtype. This disorder is characterised by classical features of multiple episodes of brief dyskinesia precipitated by “kinesigenic trigger”. We present a case of 10-year-old boy with genetically proven PRRT2 related PKD. This child had self-limited infantile epilepsy and paroxysmal dyskinesia undiagnosed for last five years. Child showed dramatic response to carbamazepine. However, the drug was discontinued due to extensive cutaneous rash. Child was given a trial of valproate, but with no response. Later child responded to topiramate and remained symptom free for a follow up of three months thereafter.

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Copyright (c) 2024 Sonali Singh, Rahul Sinha

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How to Cite
Singh, S., & Sinha, R. (2025). PRRT2 related Paroxysmal Kinesigenic Dyskinesia (PKD): The Therapeutic Challenges. Journal of the International Child Neurology Association, 1(1). https://doi.org/10.17724/jicna.2024.259
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References

  1. Landolfi A, Barone P, Erro R. The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology. Front Neurol. 2021;12:629747.
  2. Méneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E. PRRT2 mutations and paroxysmal disorders. Eur J Neurol. 2013 Jun;20(6):872–8.
  3. Erro R, Bhatia KP, Espay AJ, Striano P. The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies. Mov Disord. 2017;32(3):310–8.
  4. Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015 Dec 1;138(12):3476–95.
  5. Valente P, Castroflorio E, Rossi P, Fadda M, Sterlini B, Cervigni RI, et al. PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery. Cell Rep. 2016 Apr 5;15(1):117–31.
  6. Chou IC, Lin SS, Lin WD, Wang CH, Chang YT, Tsai FJ, et al. Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation. BioMedicine. 2014;4:15.
  7. Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, et al. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China. Transl Neurodegener. 2021 Feb 16;10:7.
  8. Zhao Q, Liu Z, Hu Y, Fang S, Zheng F, Li X, et al. Different experiences of two PRRT2-associated self-limited familial infantile epilepsy. Acta Neurol Belg. 2020 Aug;120(4):1025–8.
  9. Zhao Q, Hu Y, Liu Z, Fang S, Zheng F, Wang X, et al. PRRT2 variants and effectiveness of various antiepileptic drugs in self-limited familial infantile epilepsy. Seizure. 2021 Oct;91:360–8.
  10. Yang Y, Su Y, Guo Y, Ding Y, Xu S, Jiang Y, et al. Oxcarbazepine Versus Carbamazepine in the Treatment of Paroxysmal Kinesigenic Dyskinesia. Int J Neurosci. 2012 Oct 26;122(12):719–22.
  11. Huang YG, Chen YC, Du F, Li R, Xu GL, Jiang W, et al. Topiramate therapy for paroxysmal kinesigenic choreoathetosis. Mov Disord. 2005;20(1):75–7.
  12. Peng G, Wang K, Yuan Y, Zheng X, Luo B. Clinical analysis of nine cases of paroxysmal exercise-induced dystonia. J Huazhong Univ Sci Technol Med Sci Hua Zhong Ke Ji Xue Xue Bao Yi Xue Ying Wen Ban Huazhong Keji Daxue Xuebao Yixue Yingdewen Ban. 2012 Dec;32(6):937–40.
  13. Spacey S, Adams P. Familial Paroxysmal Kinesigenic Dyskinesia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [cited 2022 Nov 8]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1460/
  14. Motoyama R, Matsudaira T, Terada K, Usui N, Yoshiura KI, Takahashi Y. PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy. Epilepsy Behav Rep. 2022;19:100554.
  15. Zhao Q, Hu Y, Liu Z, Fang S, Zheng F, Wang X, et al. PRRT2 variants and effectiveness of various antiepileptic drugs in self-limited familial infantile epilepsy. Seizure. 2021 Oct;91:360–8.
  16. Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, et al. Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy. Neurol Genet. 2022 Oct;8(5):e200020.
  17. F P, S L, H L, Y X, M H. Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report. Neuropsychiatr Dis Treat [Internet]. 2018 Jun 5 [cited 2022 Nov 8];14. Available from: https://pubmed.ncbi.nlm.nih.gov/29892195/