Abstract:
PURPOSE OF REVIEW:Only two functionally validated susceptibility genes, CACNA1H and GABRD, have so far been identified in the common epilepsies using a candidate gene approach. The difficulty with the alternative statistical approach, where none of the suggested candidates has been functionally validated, may partly be due to the posited genetic architecture of the common epilepsies, such as the idiopathic generalized epilepsies. A subset of both rare and common variants from a much larger pool of susceptibility genes may contribute to disease risk. We review methods and designs for the genetic dissection of common epilepsies. RECENT FINDINGS:Genetic association studies, though theoretically more powerful than linkage analysis, have not yet delivered validated susceptibility genes. Methodological flaws can undermine such studies but are correctable. Concerns remain, however, about the extent of underlying genetic heterogeneity in common epilepsies. Genome-wide association studies are increasingly feasible, but issues remain about their conduct and analysis. Meta-analysis may resolve conflicting association studies, facilitated by the establishment of databases of genetic association studies. Newer multi-locus and admixture mapping approaches are attractive alternatives to traditional association studies and may offer new insights into identifying epilepsy genes. SUMMARY:We conclude by emphasizing the importance of deeper endophenotyping using electroclinical, imaging, and molecular approaches to dissect the common epilepsies.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Tan NC,Mulley JC,Scheffer IEdoi
10.1097/01.wco.0000218232.66054.46subject
Has Abstractpub_date
2006-04-01 00:00:00pages
157-63issue
2eissn
1350-7540issn
1473-6551pii
00019052-200604000-00010journal_volume
19pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:The results of phase 2 randomized controlled trials for the prevention of episodic and chronic migraine demonstrating the efficacy and safety of four mAbs targeting the calcitonin gene-related peptide (CGRP) pathway [ALD403 (eptinezumab), AMG334 (erenumab), LY2951742 (galcanezumab) and TEV48125 (frema...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000438
更新日期:2017-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders. RECENT FINDINGS:More than 10 genes that cause axonal CMT have been identified over the past decade. Many of these gen...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834aa331
更新日期:2011-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Health-related quality of life is a new outcome variable in neurology. Several generic measures aim at assessing this variable in adults with neurological diseases. Disease-specific measures are still rare; however, individuals with neurological diseases frequently suffer from cognitive impairment, ye...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000194140.56429.75
更新日期:2005-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The recent identification of mutations in five genes coding for proteins with putative or demonstrated glycosyltransferase activity has shed light on a novel mechanism responsible for muscular dystrophy. Abnormal glycosylation of alpha-dystroglycan appears to be a common finding in all these condition...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200404000-00020
更新日期:2004-04-01 00:00:00
abstract:PURPOSE OF REVIEW:To review some aspects of the relationship between epilepsy and depression that have recently received increasing attention and may become major research topics in the near future. RECENT FINDINGS:Epidemiological studies show that depression and suicide are, in some cases, premorbid symptoms precedin...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000431
更新日期:2017-04-01 00:00:00
abstract:PURPOSE OF REVIEW:The exotic and emerging viral encephalitides are caused by animal or human viruses and characterised by sudden unexpected outbreaks of neurological disease, usually in tropical and sub-tropical regions, but sometimes spreading to temperate areas. Although a wide range of viruses come within this label...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000073944.19076.56
更新日期:2003-06-01 00:00:00
abstract:PURPOSE OF REVIEW:This article reviews what is known about the health and well being of adults with cerebral palsy. It also addresses the factors known to affect the areas identified in the World Health Organization International Classification of Functioning model as being critical for optimal health and well being. ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3282f6a499
更新日期:2008-04-01 00:00:00
abstract:PURPOSE OF REVIEW:To give an overview of recent data on the use of skin biopsy as a diagnostic tool in neuropathies. RECENT FINDINGS:The sensitivity and specificity of skin biopsy in detecting small fiber neuropathy is supported by new data. In many patients with small fiber neuropathy, a treatable disorder can be ide...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328309000c
更新日期:2008-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The traditional focus of neurorehabilitaion has been on the patients' attention on their deficit, such that they should become aware of their problems and gain intentional control of compensatory strategies (descending approach). We review prism adaptation as one of the approaches that emphasize ascen...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328010924b
更新日期:2006-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Despite the extensive research carried out in the past decades, the current pathophysiological notions of neurodegenerative disease as well as effective treatments to reduce their progression are largely unknown. Alterations of the human microbiota, the plethora of different microscopic organisms that...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000496
更新日期:2017-12-01 00:00:00
abstract::This is a review of chemotherapy options for patients with brain tumors, both at the time of initial diagnosis and at recurrence. Gliomas, the most common malignant brain tumors, represent the main focus of the review; chemotherapeutic options for supratentorial, brain stem, and optic track gliomas are discussed. ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200012000-00002
更新日期:2000-12-01 00:00:00
abstract:PURPOSE OF REVIEW:To describe the path of technological developments that have led to the actual application of MRI-guided focused ultrasound in multiple neurological disorders and to update the more recent technical advances in the field. An insight into the latest clinical achievements in movement disorders will be p...
journal_title:Current opinion in neurology
pub_type: 杂志文章
doi:10.1097/WCO.0000000000000840
更新日期:2020-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Status epilepticus refractory to first and second-line anticonvulsants represents an outstanding challenge to the medical team. This review covers new insights into the anaesthetic and intensive care of status epilepticus. RECENT FINDINGS:In the anaesthetic treatment of status epilepticus, barbiturat...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328042bacb
更新日期:2007-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Inflammation is implicated in ischaemic stroke as a general cardiovascular risk factor, a possible immediate trigger, a component (and possible exacerbating factor) of the response to tissue injury, a marker of future risk, and as a therapeutic target. Each aspect is reviewed. RECENT FINDINGS:Evidenc...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32813ba151
更新日期:2007-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Stroke thrombolysis is in the process of moving from academic centers into community-based standard therapy in experienced centers. Recently published data on patient selection, imaging and other technical or organizational advances are reviewed in order to improve the safety and efficacy of stroke th...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000053584.70044.65
更新日期:2003-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Patients with acute life-threatening neuromuscular disease require close cooperation between neuromuscular and intensive care specialists to achieve the best possible outcomes. The problems encountered by these patients are different from those in traditional neuromuscular practice, and neurologists c...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000480
更新日期:2017-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Cognitive impairments are common in children with epilepsy. They may already be present before the onset of epilepsy or occur - and even progress - during its course. Many variables contribute to cognitive dysfunction. Those that can be targeted to prevent (further) cognitive impairment will be highli...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000424
更新日期:2017-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Most patients suffering from muscular dystrophies can now obtain a precise diagnosis of their underlying molecular defect, but no efficient treatment to prevent disability and death. This review summarizes recent progress towards developing efficient treatments for these severe diseases. RECENT FINDI...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200210000-00007
更新日期:2002-10-01 00:00:00
abstract:PURPOSE OF REVIEW:To describe the background, principles and implementation of the Stroke Action Plan for Europe 2018--2030 (SAP-E) in the perspective of the current COVID-19 pandemic. RECENT FINDINGS:SAP-E sets targets for the implementation of evidence-based preventive actions and stroke services to 2030. A recent m...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000893
更新日期:2021-02-01 00:00:00
abstract::Stimulated by the impressive effect of interferon beta on magnetic resonance imaging-detected disease activity, the past year or so has seen a particular interest in the use of magnetic resonance imaging to monitor treatment. To be effective in this regard, there needs to be a high sensitivity and accuracy in detectin...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199506000-00009
更新日期:1995-06-01 00:00:00
abstract::This article reviews the current knowledge with regard to neurotoxicity of conventional radiation, including recent understanding of the pathophysiology, molecular biology, diagnostic evaluation and clinical presentations, as well as proposed treatment modalities and possible protective agents. ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200112000-00008
更新日期:2001-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review describe the role and advancements of MRI in the diagnosis and monitoring of progressive multifocal leukoencephalopathy (PML) in multiple sclerosis patients treated with natalizumab. RECENT FINDINGS:MRI is the most sensitive paraclinical tool in the detection of PML lesions in natalizumab...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000099
更新日期:2014-06-01 00:00:00
abstract:PURPOSE OF REVIEW:This review highlights recent advances in cochlear gene therapy over the past several years. Cochlear gene therapy has undergone tremendous advances over the past decade. Beginning with some groundbreaking work in 2005 documenting hair cell regeneration using virally mediated delivery of the mouse ato...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834f038c
更新日期:2012-02-01 00:00:00
abstract:PURPOSE OF REVIEW:This article will review the recent experience with West Nile virus encephalitis and myelitis. RECENT FINDINGS:In the summer of 2003, the majority of cases of West Nile virus infection in the United States were reported from the western states. The transmission of West Nile virus through blood transf...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200406000-00016
更新日期:2004-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The trigeminal autonomic reflex is a physiological reflex with an important protective function which also plays a role in pathophysiological conditions, such as primary headache. It is not understood whether the autonomic symptoms in trigeminal autonomic cephalalgias and migraine are the consequence ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000691
更新日期:2019-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim is to review recent publications on amyotrophic lateral sclerosis (ALS). RECENT FINDINGS:The Awaji recommendations for electrophysiological diagnosis will permit earlier clinical trials entry. The use of ultrasound to visualize fasciculations, even in deep muscles, will contribute to earlier ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834916a9
更新日期:2011-10-01 00:00:00
abstract::This article reviews recent studies concerning memory and language disorders in Alzheimer's disease and other neurodegenerative conditions. It shows how different memory and language subcomponents may differentially be impaired in different neurodegenerative diseases and at different stages of the same disease. ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199810000-00003
更新日期:1998-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Neurosteroids are a family of compounds synthesized directly in the brain by transforming cholesterol into pregnenolone, which is then converted to compounds such as allopregnanolone and allotetrahydrodeoxycorticosterone. In view of their ability to modulate neurotransmission, neurosteroids may influe...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32833735cf
更新日期:2010-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Frontotemporal dementia (FTD) is a clinically, pathologically and genetically heterogeneous disorder. Mutations in a number of genes are associated with FTD, although until recently only two [progranulin (GRN) and microtubule-associated protein tau (MAPT)] were known to be major causes of the disease....
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834cd442
更新日期:2011-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim of this article is to review the current literature on endovascular treatment of acute ischemic stroke in the aftermath of the coronavirus disease 2019 (COVID-19) lockdown. RECENT FINDINGS:The outbreak of the COVID-19 has had effect of unprecedented magnitude on the social, economic and perso...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000890
更新日期:2021-02-01 00:00:00