Epilepsy

被引:652
作者
Devinsky, Orrin [1 ,2 ,3 ]
Vezzani, Annamaria [4 ]
O'Brien, Terence J. [5 ,6 ,7 ,8 ]
Jette, Nathalie [9 ,10 ]
Scheffer, Ingrid E. [11 ,12 ,13 ,14 ]
de Curtis, Marco [15 ]
Perucca, Piero [5 ,6 ,7 ,8 ]
机构
[1] NYU, Sch Med, Dept Neurol, New York, NY 10003 USA
[2] NYU, Sch Med, Dept Neurosci, New York, NY 10003 USA
[3] NYU, Sch Med, Dept Neurosurg & Psychiat, New York, NY 10003 USA
[4] IRCCS Mario Negri Inst Pharmacol Res, Lab Expt Neurol, Dept Neurosci, Milan, Italy
[5] Monash Univ, Cent Clin Sch, Dept Neurosci, Melbourne, Vic, Australia
[6] Alfred Hlth, Dept Neurol, Melbourne, Vic, Australia
[7] Univ Melbourne, Royal Melbourne Hosp, Dept Neurol, Melbourne, Vic, Australia
[8] Univ Melbourne, Royal Melbourne Hosp, Dept Med, Melbourne, Vic, Australia
[9] Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA
[10] Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA
[11] Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia
[12] Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia
[13] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
[14] Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia
[15] Fdn IRCCS Ist Neurol Carlo Besta, Epilepsy Unit, Milan, Italy
来源
NATURE REVIEWS DISEASE PRIMERS | 2018年 / 4卷
基金
英国医学研究理事会; 澳大利亚研究理事会;
关键词
HIGH-FREQUENCY OSCILLATIONS; QUALITY-OF-LIFE; ANTIEPILEPTIC DRUG-TREATMENT; BRAIN-BARRIER DYSFUNCTION; PROGRESSIVE MYOCLONUS EPILEPSY; MIGRATING PARTIAL SEIZURES; SUDDEN UNEXPECTED DEATH; LONG-TERM; KETOGENIC DIET; 1ST SEIZURE;
D O I
10.1038/nrdp.2018.24
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Epilepsy affects all age groups and is one of the most common and most disabling neurological disorders. The accurate diagnosis of seizures is essential as some patients will be misdiagnosed with epilepsy, whereas others will receive an incorrect diagnosis. Indeed, errors in diagnosis are common, and many patients fail to receive the correct treatment, which often has severe consequences. Although many patients have seizure control using a single medication, others require multiple medications, resective surgery, neuromodulation devices or dietary therapies. In addition, one-third of patients will continue to have uncontrolled seizures. Epilepsy can substantially impair quality of life owing to seizures, comorbid mood and psychiatric disorders, cognitive deficits and adverse effects of medications. In addition, seizures can be fatal owing to direct effects on autonomic and arousal functions or owing to indirect effects such as drowning and other accidents. Deciphering the pathophysiology of epilepsy has advanced the understanding of the cellular and molecular events initiated by pathogenetic insults that transform normal circuits into epileptic circuits (epileptogenesis) and the mechanisms that generate seizures (ictogenesis). The discovery of >500 genes associated with epilepsy has led to new animal models, more precise diagnoses and, in some cases, targeted therapies.
引用
收藏
页数:24
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