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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Lee, H-Y; Huang, Y; Bruneau, N; Roll, P; Roberson, EDO; Hermann, M; Quinn, E; ... Ptacek, LJ; + view all (2012) Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions. CELL REPORTS , 1 (1) pp. 2-12. 10.1016/j.celrep.2011.11.001.

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Type: Article
Title: Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
DOI: 10.1016/j.celrep.2011.11.001
Keywords: Science & Technology, Life Sciences & Biomedicine, Cell Biology, HUMAN-CHROMOSOME 16, DYSTONIC CHOREOATHETOSIS, LINKAGE, 16P12-Q12, LOCUS, GLUT1, CONFIRMATION, EXOCYTOSIS, FAMILIES, SUGGESTS
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
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1349546
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