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The Causes of Epilepsy最新文献

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Epilepsy after epilepsy surgery 癫痫手术后的癫痫
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.078
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引用次数: 0
Approach to the Diagnosis of Cortical Developmental Disorders and their Clinical Genetics 皮质发育障碍的诊断方法及其临床遗传学
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.011
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引用次数: 1
Seizures and Epilepsy Associated with Pertussis and Other Vaccinations 与百日咳和其他疫苗接种相关的癫痫发作和癫痫
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.111
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引用次数: 0
Menkes’ Disease 门克斯”病
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.035
Sheikh Hamdan
Description Menkes disease is a neurodegenerative, recessive X chromosome linked disease of copper imbalance. The impaired copper transport leads to deficiencies in intestinal absorption of copper and in intracellular processing of copper in the central nervous system and connective tissues, where enzymes requiring copper as a cofactor no longer function properly. Clinical manifestations usually begin within the first 1–2 months of life and include abnormal kinky hair, eyebrows, and eyelashes, progressive cerebral deterioration, abnormal faces, ocular manifestations, connective tissue abnormalities, vascular defects, skeletal changes, bleeding diathesis, and a life span of three years. Menkes disease occurs worldwide at a rate of 1 individual per 100,000-250,000 live births.
门克斯病是一种神经退行性、隐性的X染色体铜失衡相关疾病。铜运输受损导致肠道对铜的吸收不足,中枢神经系统和结缔组织的细胞内铜加工不足,需要铜作为辅助因子的酶不再正常工作。临床表现通常在出生后1-2个月内开始,包括头发、眉毛和睫毛异常弯曲、进行性大脑退化、面部异常、眼部表现、结缔组织异常、血管缺陷、骨骼变化、出血素质,寿命为3年。门克斯病在世界范围内的发病率为每10万至25万活产1例。
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引用次数: 0
The Causes of Status Epilepticus in Children 儿童癫痫持续状态的病因分析
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.126
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引用次数: 1
Ring Chromosome 14 and Other Rare Ring Chromosomal Disorders 环染色体14和其他罕见的环染色体疾病
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.065
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引用次数: 0
Index 指数
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.131
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引用次数: 0
Epilepsy Associated with Head Injury 与头部损伤相关的癫痫
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.076
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引用次数: 0
GABA Syndromes GABA 综合征
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.041
{"title":"GABA Syndromes","authors":"","doi":"10.1017/9781108355209.041","DOIUrl":"https://doi.org/10.1017/9781108355209.041","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":"133899146","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}
引用次数: 0
Epilepsy Associated with Cavernous Malformations 与海绵体畸形相关的癫痫
Pub Date : 2019-04-30 DOI: 10.1017/9781108355209.098
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引用次数: 0
期刊
The Causes of Epilepsy
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