Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations

Laura Silveira-Moriyama*, Alice R. Gardiner, Esther Meyer, Mary D. King, Martin Smith, Karl Rakshi, Alasdair Parker, Andrew A. Mallick, Richard Brown, Grace Vassallo, Philip E. Jardine, Marilisa M. Guerreiro, Andrew J. Lees, Henry Houlden, Manju A. Kurian

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

40 Citations (Scopus)


Aim: To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group. Method: We report the detailed clinical and molecular genetic features of 11 patients (six females, five males) with childhood-onset PRRT2-mutation-positive PKD. Results: Mean age at disease onset was 8 years 7.5 months (range 5-11y), and clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. Most patients also had non-kinesigenic attacks in addition to the classical movement-induced paroxysmal episodes. One family demonstrated great phenotypic variability with PKD, infantile convulsions, and/or hemiplegic migraine affecting different family members with the same mutation. All patients in whom antiepileptics (carbamazepine/phenytoin) were tried showed a dramatic improvement with complete abolition of dyskinetic episodes. Interpretation: Our case series provides a detailed clinical description of patients with PRRT2-PKD, and reports a spectrum of disease-causing mutations, thereby expanding both the clinical phenotype and mutation spectrum of disease.

Original languageEnglish
Pages (from-to)327-334
Number of pages8
JournalDevelopmental Medicine and Child Neurology
Issue number4
Publication statusPublished - 30 Jan 2013

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Copyright 2013 Elsevier B.V., All rights reserved.


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