{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T23:07:44Z","timestamp":1648681664734},"reference-count":17,"publisher":"FapUNIFESP (SciELO)","issue":"3B","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2000,9]]},"abstract":"<jats:p>OBJETIVO: Investiga\u00e7\u00e3o das caracter\u00edsticas cl\u00ednicas e gen\u00e9ticas das epilepsias parciais familiares nos ambulat\u00f3rios de epilepsia da UNICAMP. M\u00c9TODO: Hist\u00f3ria familiar foi obtida em todos os pacientes em acompanhamento, de outubro de 1997 a dezembro de 1998, e aqueles com hist\u00f3ria familiar positiva para epilepsia foram investigados em detalhe. Heredograma detalhado foi constru\u00eddo para todas as fam\u00edlias identificadas e hist\u00f3ria cl\u00ednica de todos os indiv\u00edduos possivelmente afetados foi obtida. Crises e s\u00edndromes epil\u00e9pticas foram classificadas de acordo com as recomenda\u00e7\u00f5es da ILAE. Sempre que poss\u00edvel, EEG e resson\u00e2ncia magn\u00e9tica foram realizados. RESULTADOS: Hist\u00f3ria familiar positiva foi identificada em 32 pacientes n\u00e3o relacionados. Um total de 213 indiv\u00edduos possivelmente afetados foram identificados, dos quais 161 foram clinicamente avaliados. O n\u00famero de indiv\u00edduos afetados por fam\u00edlia variou de dois a 23. Epilepsia de lobo temporal (ELT) foi identificada em 22 fam\u00edlias (68%), epilepsia de lobo frontal em uma fam\u00edlia (3%), epilepsia com esp\u00edculas centro-temporais em cinco fam\u00edlias (15%) e outras epilepsias parciais benignas da inf\u00e2ncia em quatro fam\u00edlias (12%). A maioria dos indiv\u00edduos afetados nas fam\u00edlias com ELT (69%) apresentava caracter\u00edsticas cl\u00ednicas e\/ou de EEG consistentes com ELT t\u00edpica. Entretanto, a gravidade da epilepsia variou, com 76% dos pacientes com remiss\u00e3o de crises ou bom controle com medica\u00e7\u00e3o, e 24% com crises refrat\u00e1rias, incluindo 7 pacientes que foram submetidos a tratamento cir\u00fargico. Nas 10 fam\u00edlias com outras s\u00edndromes epil\u00e9pticas, identificamos 39 indiv\u00edduos possivelmente afetados, sendo 23 avaliados clinicamente. Todos apresentavam bom controle de crises (com ou sem medica\u00e7\u00e3o) exceto um paciente com epilepsia frontal. An\u00e1lise dos heredogramas sugeriu heran\u00e7a autoss\u00f4mica dominante com penetr\u00e2ncia incompleta em todas as fam\u00edlias estudadas. CONCLUS\u00c3O: A ocorr\u00eancia familiar \u00e9 comum nas epilepsias parciais, tanto em adultos como em crian\u00e7as. A maior parte dos casos estudados foi de pacientes com ELT e a express\u00e3o cl\u00ednica n\u00e3o foi diferente da observada em casos espor\u00e1dicos, predominando pacientes com bom controle de crises, apesar do car\u00e1ter heterog\u00eaneo. A identifica\u00e7\u00e3o dos genes envolvidos nos casos estudados poder\u00e1 ser \u00fatil na classifica\u00e7\u00e3o das s\u00edndromes epil\u00e9pticas, na determina\u00e7\u00e3o do progn\u00f3stico e regime terap\u00eautico mais indicado.<\/jats:p>","DOI":"10.1590\/s0004-282x2000000500011","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T14:27:29Z","timestamp":1113575249000},"page":"862-868","source":"Crossref","is-referenced-by-count":0,"title":["Epilepsias parciais familiares"],"prefix":"10.1590","volume":"58","author":[{"given":"ELIANE","family":"KOBAYASHI","sequence":"first","affiliation":[{"name":"Universidade Estadual de Campinas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FERNANDO","family":"CENDES","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SOLANGE 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