RESUMEN
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.
Asunto(s)
Cromosomas Humanos Par 4/genética , Epilepsias Parciales/genética , Epilepsias Parciales/fisiopatología , Ligamiento Genético , Adolescente , Adulto , Anciano , Brasil , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , Recién Nacido , Masculino , Linaje , Convulsiones/fisiopatologíaRESUMEN
Questöes relacionadas ao prognóstico das epilepsias e ao papel das drogas antiepilépticas (DAEs) continuam sendo tema de calorosas discussöes. Estudos populacionais recentes sugerem que uma boa parcela dos pacientes com epilepsia podem apresentar remissäo espontânea, um fato que é contrário à concepçäo da evoluçäo inexorável da epilepsia, caso o paciente näo recebesse tratamento precoce com DAEs. O uso de DAEs a curto prazo pode diminuir a morbidade e a mortalidade associadas a epilepsia, porém o seu papel a longo prazo permanece incerto. Pode parecer paradoxal a necessidade de desenvolvimento de novos fármacos, se o seu papel ainda näo está inteiramente esclarecido em pacientes com epilepsia recém diagnosticada. Entretanto, devido à toxicidade das DAEs atuais, e principalmente para os pacientes rotulados de "farmaco-resistentes", esta parece ser uma das poucas esperanças no controle das crises