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Partial epilepsy with pericentral spikes: A new familial epilepsy syndrome with evidence for linkage to chromosome 4p15

Kinton, L; Johnson, MR; Smith, SJM; Farrell, F; Stevens, J; Rance, JB; Claudino, AM; ... Sander, JWA; + view all (2002) Partial epilepsy with pericentral spikes: A new familial epilepsy syndrome with evidence for linkage to chromosome 4p15. ANN NEUROL , 51 (6) 740 - 749. 10.1002/ana.10221.

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Abstract

The genetic analysis of simple Mendelian epilepsies remains a key strategy in advancing our understanding of epilepsy. In this article, we describe a new family epilepsy syndrome, partial epilepsy with pericentral spikes, which we map to chromosome 4p15. We distinguish it clinically, electrophysiologically, and genetically from previously described Mendelian epilepsies. The family described is a large Brazilian kindred of Portuguese extraction in which affected family members manifest a variety of seizure types, including hemiclonic, hemitonic, generalized tonic-clonic, simple partial (stereotyped episodes of epigastric pain), and complex partial seizures consistent with temporal lobe epilepsy. The syndrome is benign, either requiring no treatment or responding to a single antiepileptic medication. Seizure onset is in the first or second decades of life, with seizures in individuals up to the age of 71 years and documented encephalogram changes up to the age of 30 years. A key feature of partial epilepsy with pericentral spikes is a characteristic encephalogram abnormality of spikes or sharp waves in the pericentral region (centroparietal, centrofrontal, or centrotemporal). This distinctive encephalogram abnormality of pericentral spikes unites these several seizure types into a discrete family epilepsy syndrome. As with other familial epilepsies, the inherited nature of this new syndrome may be overlooked because of the variability in penetrance and seizure types among affected family members.

Type: Article
Title: Partial epilepsy with pericentral spikes: A new familial epilepsy syndrome with evidence for linkage to chromosome 4p15
DOI: 10.1002/ana.10221
Keywords: FRONTAL-LOBE EPILEPSY, FEBRILE SEIZURES PLUS, BENIGN ROLANDIC EPILEPSY, POTASSIUM CHANNEL GENE, GENERALIZED EPILEPSY, CENTROTEMPORAL SPIKES, MISSENSE MUTATION, VARIABLE FOCI, HUMAN GENOME, 2ND LOCUS
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 Experimental Epilepsy
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/140211
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