Pub Date : 2019-04-30DOI: 10.1017/9781108355209.079
{"title":"Epilepsy after Abusive Head Trauma","authors":"","doi":"10.1017/9781108355209.079","DOIUrl":"https://doi.org/10.1017/9781108355209.079","url":null,"abstract":"","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116891582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/9781108355209.127
{"title":"The Common Causes of Convulsive Status Epilepticus in Adults","authors":"","doi":"10.1017/9781108355209.127","DOIUrl":"https://doi.org/10.1017/9781108355209.127","url":null,"abstract":"","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127049308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/CBO9780511921001.050
R. Guerrini, C. Barba
The porphyrias are a group of conditions in which there are deficiencies in one of the eight enzymes of the heme biosynthetic pathway (the porphyrin pathway): four of the enzymes are located in the mitochondria and the other four in the cytosol. There are three acute porphyrias which cause epilepsy and other neurological symptoms: acute intermittent porphyria (AIP), variegate porphyria, and hereditary coproporphyria (HCP). This chapter discusses the clinical features, diagnostic tests and treatment options for porphyria. The diagnosis of acute porphyria depends on demonstrating increased levels of urinary d-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine. Genetic testing can confirm the disease, but as there are many different mutations in the PBGD gene it is not used widely for screening purposes. Non-enzyme-inducing drugs such as gabapentin, pregabalin, topiramate, or levetiracetam are much safer. For acute therapy, diazepam and clonazepam are relatively safe. Magnesium sulfate has also traditionally been used.
{"title":"Polymicrogyria and Schizencephaly","authors":"R. Guerrini, C. Barba","doi":"10.1017/CBO9780511921001.050","DOIUrl":"https://doi.org/10.1017/CBO9780511921001.050","url":null,"abstract":"The porphyrias are a group of conditions in which there are deficiencies in one of the eight enzymes of the heme biosynthetic pathway (the porphyrin pathway): four of the enzymes are located in the mitochondria and the other four in the cytosol. There are three acute porphyrias which cause epilepsy and other neurological symptoms: acute intermittent porphyria (AIP), variegate porphyria, and hereditary coproporphyria (HCP). This chapter discusses the clinical features, diagnostic tests and treatment options for porphyria. The diagnosis of acute porphyria depends on demonstrating increased levels of urinary d-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine. Genetic testing can confirm the disease, but as there are many different mutations in the PBGD gene it is not used widely for screening purposes. Non-enzyme-inducing drugs such as gabapentin, pregabalin, topiramate, or levetiracetam are much safer. For acute therapy, diazepam and clonazepam are relatively safe. Magnesium sulfate has also traditionally been used.","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117249510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/9781108355209.099
{"title":"Epilepsy Associated with Other Vascular Disorders","authors":"","doi":"10.1017/9781108355209.099","DOIUrl":"https://doi.org/10.1017/9781108355209.099","url":null,"abstract":"","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126849773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/9781108355209.034
{"title":"Peroxisomal Disorders and Epilepsy","authors":"","doi":"10.1017/9781108355209.034","DOIUrl":"https://doi.org/10.1017/9781108355209.034","url":null,"abstract":"","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124180570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/9781108355209.054
Alexander Jerman, J. Lindič
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.
{"title":"Tuberous Sclerosis Complex","authors":"Alexander Jerman, J. Lindič","doi":"10.1017/9781108355209.054","DOIUrl":"https://doi.org/10.1017/9781108355209.054","url":null,"abstract":"Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116324130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/9781108355209.043
{"title":"Epilepsy Caused by Congenital Disorders of Glycosylation","authors":"","doi":"10.1017/9781108355209.043","DOIUrl":"https://doi.org/10.1017/9781108355209.043","url":null,"abstract":"","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126224997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/9781108355209.089
{"title":"Epilepsy Associated with Neurocysticercosis","authors":"","doi":"10.1017/9781108355209.089","DOIUrl":"https://doi.org/10.1017/9781108355209.089","url":null,"abstract":"","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126540742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-30DOI: 10.1017/9781108355209.012
{"title":"Approach to the Diagnosis of the Inborn Errors of Metabolism Associated with Epilepsy and their Clinical Genetics","authors":"","doi":"10.1017/9781108355209.012","DOIUrl":"https://doi.org/10.1017/9781108355209.012","url":null,"abstract":"","PeriodicalId":387881,"journal":{"name":"The Causes of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130442393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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