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Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Spacey, SD; Valente, EM; Wali, GM; Warner, TT; Jarman, PR; Schapira, AHV; Dixon, PH; ... Wood, NW; + view all (2002) Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene. MOVEMENT DISORD , 17 (4) 717 - 725. 10.1002/mds.10126.

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Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous. (C) 2002 Movement Disorder Society.

Type: Article
Title: Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
DOI: 10.1002/mds.10126
Keywords: neurogenetics, paroxysmal kinesigenic dyskinesia, seizures, HUMAN-CHROMOSOME 16, POTASSIUM CHANNEL GENE, INFANTILE CONVULSIONS, CHOREOATHETOSIS, EPILEPSY, FAMILY, LOCUS, MUTATION, LINKAGE, MAPS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/140205
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