Epilepsy and Seizure最新文献_第10页

Disorders of monoamine metabolism: inherited disorders frequently misdiagnosed as epilepsy 单胺代谢障碍:遗传性疾病常被误诊为癫痫

Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.147

Wang-Tso Lee

{"title":"Disorders of monoamine metabolism: inherited disorders frequently misdiagnosed as epilepsy","authors":"Wang-Tso Lee","doi":"10.3805/EANDS.3.147","DOIUrl":"https://doi.org/10.3805/EANDS.3.147","url":null,"abstract":"Pediatric neurotransmitter diseases are new emerging neurological diseases in children. They include tyrosine hydroxylase (TH) deficiency, aromatic L-amino acid decarboxylase (AADC) deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency, gua-nosine triphosphate cyclohydrolase I deficiency, sepiapterin reductase (SR) deficiency and cerebral folate deficiency. Of these, monoamine biosynthesis and metabolism disorders are one group of inherited disorders usually requiring specific diagnostic procedures. Children with disorders of neurotransmitters often present with psychomotor retardation, hypotonia and microcephaly. Although seizures may be more common in patients with SR deficiency, patients with TH or AADC deficiency only occasionally have non-epileptic myoclonus. However, the episodic dystonia and oculogyric crisis manifested in these patients are frequently misdiagnosed as epilepsy, and multiple anti-epileptic drugs (AEDs) may be given. In the present short review, the pathogenesis and diagnosis of these neurotransmitter disorders are discussed, with the hope that correct diagnosis of pediatric neurotransmitter diseases can reduce the unnecessary AED treatment.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"147-153"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082213","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

Antiepileptic effects of levetiracetam related to the regulation of cell cycle reentry in the parietal cortex of EL mouse brain 左乙拉西坦的抗癫痫作用与调节EL小鼠大脑顶叶皮层细胞周期再入的关系

Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.96

Y. Murashima, M. Yoshii

引用次数: 1

EFHC1: A gene for juvenile myoclonic epilepsy EFHC1:青少年肌阵挛性癫痫的基因

Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.121

K. Yamakawa

引用次数: 0

Isolating Epilepsy Genes and Their Comorbidiites 分离癫痫基因及其合并症

Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.72

J. Noebels

{"title":"Isolating Epilepsy Genes and Their Comorbidiites","authors":"J. Noebels","doi":"10.3805/EANDS.3.72","DOIUrl":"https://doi.org/10.3805/EANDS.3.72","url":null,"abstract":"The number of genes underlying monogenic epilepsies in human and animal models continues to grow as the clinical syndromes for a variety of heritable epilepsies yield to neurogenetic analysis. Interestingly, the diversity of co-morbid phenotypes linked to single epilepsy gene defects is also expanding. While many rare familial idiopathic epilepsy disorders are typically defined as \"pure\" seizure syndromes, many occur in the context of more complex clinical symptomatology. This is not surprising, since genes that alter cortical excitability are expressed in diverse brain networks, as well as in other tissues. In this brief review, two such genes are described. The gene encoding amyloid precursor protein along with related genes contributing to the accumulation of an aberrant peptide cleavage product, Aβ42, has now been placed in a molecular pathway mediating both the dementia of Alzheimer's Disease and seizures. A second gene, KCNQ1, encoding one of the voltage-sensitive ion channels contributing to membrane repolarisation in the heart, is co-expressed in both heart and brain where mutations contribute to cardiac arrhythmias, early mortality, and seizures. KCNQ1, a member of the cardiac LQTS gene family, is the first validated candidate gene for sudden unexplained death in epilepsy (SUDEP). The new strategy of searching for epilepsy genes linked to non-epileptic co-morbidity is providing illuminating examples of the role of neuronal network hyperexcitability in explaining the clinical spectrum of complex human neurological disorders that feature seizures.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"72-83"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3805/EANDS.3.72","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082656","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: 1

Temporal lobe epilepsy associated with 'triple pathology' of hippocampal sclerosis, focal cortical dysplasia and cavernoma in the ipsilateral frontal lobe 颞叶癫痫与海马硬化、局灶性皮质发育不良和同侧额叶海绵状瘤的“三重病理”相关

Epilepsy and Seizure Pub Date : 2009-12-06 DOI: 10.3805/EANDS.2.34

K. Samura, T. Morioka, K. Hashiguchi, Y. Miyagi, H. Shigeto, A. Sakata, Shigeya Tanaka, Tomio Sasaki

引用次数: 3

Subjective and Objective Premonitory Symptoms as Epileptic Prodromes 主客观先兆症状作为癫痫前驱症状

Epilepsy and Seizure Pub Date : 2009-01-01 DOI: 10.3805/EANDS.2.17

H. Sue, Chikako Miyamoto, H. Iwasaki, K. Nakayama

引用次数: 1

Oseltamivir Phosphate Induced Alterations in EEGs of Epilepsy-Prone El Mice 磷酸奥司他韦对癫痫易感小鼠脑电图的影响

Epilepsy and Seizure Pub Date : 2009-01-01 DOI: 10.3805/EANDS.2.22

Kenichi Saito, Shinya Koizumi, Y. Kawakami