{"title":"遗传性癫痫的特发性和症状形式","authors":"A. Malov","doi":"10.17749/2077-8333/epi.par.con.2022.107","DOIUrl":null,"url":null,"abstract":"According to the new classification of the epilepsies proposed in 2017 by The International League Against Epilepsy, idiopathic epilepsies are recommended to refer to genetic epilepsy, suggesting to consider the term “idiopathic” as outdated. In connection with this, a tendency arose to refer forms of epilepsy previously called “idiopathic” as genetic epilepsy. However, idiopathic epilepsy constitutes just a part among genetic epilepsies. The other groups resulting from this etiology are monogenic epilepsies (e.g., Dravet syndrome) as well as symptomatic epilepsies due to other genetically determined syndromes (e.g., biotinidase deficiency or neuronal ceroid lipofuscinosis). The distinction between the three groups comprising genetic epilepsy is important not only due to difference in related etiology and course, but also because specific treatment in some monogenic forms might be possible. Here, the major criteria for distinguishing between such epilepsy groups are presented.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"12 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Idiopathic and symptomatic forms of genetic epilepsy\",\"authors\":\"A. Malov\",\"doi\":\"10.17749/2077-8333/epi.par.con.2022.107\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"According to the new classification of the epilepsies proposed in 2017 by The International League Against Epilepsy, idiopathic epilepsies are recommended to refer to genetic epilepsy, suggesting to consider the term “idiopathic” as outdated. In connection with this, a tendency arose to refer forms of epilepsy previously called “idiopathic” as genetic epilepsy. However, idiopathic epilepsy constitutes just a part among genetic epilepsies. The other groups resulting from this etiology are monogenic epilepsies (e.g., Dravet syndrome) as well as symptomatic epilepsies due to other genetically determined syndromes (e.g., biotinidase deficiency or neuronal ceroid lipofuscinosis). The distinction between the three groups comprising genetic epilepsy is important not only due to difference in related etiology and course, but also because specific treatment in some monogenic forms might be possible. Here, the major criteria for distinguishing between such epilepsy groups are presented.\",\"PeriodicalId\":52318,\"journal\":{\"name\":\"Epilepsy and Paroxysmal Conditions\",\"volume\":\"12 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-04-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epilepsy and Paroxysmal Conditions\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17749/2077-8333/epi.par.con.2022.107\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy and Paroxysmal Conditions","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.107","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Idiopathic and symptomatic forms of genetic epilepsy
According to the new classification of the epilepsies proposed in 2017 by The International League Against Epilepsy, idiopathic epilepsies are recommended to refer to genetic epilepsy, suggesting to consider the term “idiopathic” as outdated. In connection with this, a tendency arose to refer forms of epilepsy previously called “idiopathic” as genetic epilepsy. However, idiopathic epilepsy constitutes just a part among genetic epilepsies. The other groups resulting from this etiology are monogenic epilepsies (e.g., Dravet syndrome) as well as symptomatic epilepsies due to other genetically determined syndromes (e.g., biotinidase deficiency or neuronal ceroid lipofuscinosis). The distinction between the three groups comprising genetic epilepsy is important not only due to difference in related etiology and course, but also because specific treatment in some monogenic forms might be possible. Here, the major criteria for distinguishing between such epilepsy groups are presented.