Article
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Developmental medicine and child neurology - 1 Apr 2013
Silveira-Moriyama Laura, Gardiner Alice R, Meyer Esther, King Mary D, Smith Martin, Rakshi Karl, Parker Alasdair, Mallick Andrew A, Brown Richard, Vassallo Grace, Jardine Philip E, Guerreiro Marilisa M, Lees Andrew J, Houlden Henry, Kurian Manju A
Abstract excerpt
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...
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