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

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

Autor Kinton, L. Google Scholar
Johnson, M. R. Google Scholar
Smith, SJM Google Scholar
Farrell, F. Google Scholar
Stevens, J. Google Scholar
Rance, J. B. Google Scholar
Claudino, A. M. Google Scholar
Duncan, J. S. Google Scholar
Davis, M. B. Google Scholar
Wood, N. W. Google Scholar
Sander, JWA Google Scholar
Instituição Inst Neurol
Chalfont Ctr Epilepsy
Univ London Imperial Coll Sci Technol & Med
Universidade Federal de São Paulo (UNIFESP)
Resumo 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.
Idioma Inglês
Data de publicação 2002-06-01
Publicado em Annals of Neurology. New York: Wiley-liss, v. 51, n. 6, p. 740-749, 2002.
ISSN 0364-5134 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 740-749
Fonte http://dx.doi.org/10.1002/ana.10221
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000175863700012
Endereço permanente http://repositorio.unifesp.br/handle/11600/26877

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