异形性通用性:误解,挑战和机遇
Orrin Devinsky1, Christopher Elder1, Shobi Sivathamboo1
1From the Comprehensive Epilepsy Center (O.D., C.E.), New York University School of Medicine, New York, Department of Neuroscience (S.S.), Central Clinical School, Monash University, Melbourne, Department of Neurology (S.S.), Alfred Health, Melbourne; Departments of Medicine and Neurology, The Royal Melbourne Hospital (S.S.), Epilepsy Research Centre, Department of Medicine, Austin Health (I.E.S.), Murdoch Children's Research Institute (I.E.S.), and Department of Pediatrics (I.E.S.), Royal Children's Hospital, The University of Melbourne; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Victoria, Australia; and Department of Clinical and Experimental Epilepsy (M.J.K.), University College London Institute of Neurology, United Kingdom.
固态通用性 (IGE) 虽然影响了许多人,但诊断不足,资金不足. 需要进行研究,以改善这些慢性神经疾病的诊断,理解和治疗.
科学领域:
- 神经学 神经学
- 发病学 (Epileptology) 是一个专业的学科.
- 临床神经科学 临床神经科学
背景情况:
- 固态普遍性 (IGE) 占所有病例的20%,但获得的研究资金不到1%.
- 常见的误解表明IGE很容易诊断,理解,治疗,超越,并且患病率低,这正日益受到新兴证据的挑战.
研究的目的:
- 突出IGE在研究中的严重不足.
- 挑战关于IGE的诊断,病理生理学和临床过程的普遍误解.
- 强调需要提高IGE的诊断准确性,科学理解和治疗干预措施.
主要方法:
- 从遗传学,电生理学和神经成像研究中对新出现的证据进行审查.
- 对诊断挑战的分析,包括对焦性的误诊.
- 检查临床特征,如成人发病,耐药性和并发症.
主要成果:
- 患有IGE的患者经常被误诊,特别是在EEG或半径学上表现出焦点或不对称的特征时.
- IGE可以在成年时出现,并且通常与慢性,耐药性发作有关.
- 伴随性发病率,包括精神问题和中突然意外死亡 (SUDEP),与焦点相似.
结论:
- IGE是一种研究不足的谱,具有不充分的诊断工具,科学理解和治疗选择.
- 解决IGE的研究缺口对于改善患者的治疗结果和减少的负担至关重要.
- 对抗药物IGE的病理生理学和新疗法,包括神经调节的进一步研究是有必要的.
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