Abstract:
PURPOSE OF REVIEW:This is an update on skeletal muscle sodium channelopathies since knowledge in the field have dramatically increased in the past years. RECENT FINDING:The relationship between two phenotypes and SCN4A has been confirmed with additional cases that remain extremely rare: severe neonatal episodic laryngospasm mimicking encephalopathy, which should be actively searched for since patients respond well to sodium channel blockers; congenital myasthenic syndromes, which have the particularity to be the first recessive Nav1.4 channelopathy. Deep DNA sequencing suggests the contribution of other ion channels in the clinical expressivity of sodium channelopathies, which may be one of the factors modulating the latter. The increased knowledge of channel molecular structure, the quantity of sodium channel blockers, and the availability of preclinical models would permit a most personalized choice of medication for patients suffering from these debilitating neuromuscular diseases. SUMMARY:Advances in the understanding of the molecular structure of voltage-gated sodium channels, as well as availability of preclinical models, would lead to improved medical care of patients suffering from skeletal muscle, as well as other sodium channelopathies.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Nicole S,Fontaine Bdoi
10.1097/WCO.0000000000000238subject
Has Abstractpub_date
2015-10-01 00:00:00pages
508-14issue
5eissn
1350-7540issn
1473-6551journal_volume
28pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:Severe childhood traumatic brain injury (TBI) is the leading cause of death and acquired disability in children, causing impairments in children's sensory-motor, cognitive and behavioural functioning, with devastating consequences on community integration. Community integration is the ultimate goal of...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328340296f
更新日期:2010-12-01 00:00:00
abstract::Deletion of the 1.5 Mb tract on chromosome 17p11.2-12 that is duplicated in Charcot-Marie-Tooth disease type 1A is commonly associated with hereditary neuropathy with liability to pressure palsies. The deletion, which originates from an unequal meiotic crossover involving two homologous repeats, causes underexpression...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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abstract:PURPOSE OF REVIEW:Precise localization of the epileptogenic zone is imperative for the success of resective surgery of drug-resistant epileptic patients. To decrease the number of surgical failures, clinical research has been focusing on finding new biomarkers. For the past decades, high-frequency oscillations (HFOs, 8...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000663
更新日期:2019-04-01 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:Small vessel diseases of the brain are still clinically underrecognized whereas their burden is increasing steeply. The most frequent is acquired degenerative small vessel disease. Many hereditary or idiopathic small vessel diseases have also been identified, of which cerebral autosomal-dominant arter...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000162861.26971.03
更新日期:2005-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Medulloblastoma is no more a unique disease. Clinical and biologic classification used so far are challenged by molecular classification(s). Following the consensus article that described four molecular groups of medulloblastoma in 2012, several articles in 2017 provided more relevant classifications ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000626
更新日期:2018-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review highlights recent neuroimaging and genetic studies of attention deficit-hyperactivity disorder that may inform biologically targeted interventions and treatments. RECENT FINDINGS:The findings suggest that attention deficit-hyperactivity disorder is characterized by specific learning and c...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3280a02f78
更新日期:2007-04-01 00:00:00
abstract:PURPOSE OF REVIEW:To summarize the currently known side effects of the approved therapies of multiple sclerosis and to suggest monitoring procedures. RECENT FINDINGS:The progress in the treatment of multiple sclerosis with new very effective therapies is accompanied by a number of side effects. Some of these have alre...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000824
更新日期:2020-06-01 00:00:00
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2018-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The correct classification of non-Alzheimer's dementia is crucial to study disease mechanisms, predict disease progression and test disease-specific treatments. Brain atrophy assessment with morphometric MRI is currently the gold standard for in-vivo localization of neurodegeneration. Structural and f...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2018-08-01 00:00:00
abstract::Since the first successful attempts in 1990, human embryonic tissue transplantation has attracted the attention of multiple investigators and clinicians as a serious candidate therapy for Parkinson's disease. Although over two hundred patients have undergone the procedure, multiple issues and questions remain unresolv...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199808000-00010
更新日期:1998-08-01 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::Slowly, advances are being made in the understanding and treatment of primary childhood brain tumors. The addition of chemotherapy has resulted in better survival for children with medulloblastoma. For other tumor types, therapeutic advances have been slower. High-dose chemotherapy is increasingly being employed to tr...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199712000-00005
更新日期:1997-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD encoding emerin and LMNA encoding A-type lamins, proteins of the nuclear envelope. In the past decade, there has been an extraordinary burst of research on the nuclear envelope. Discoveries resulting from this basic research have i...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000741
更新日期:2019-10-01 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::Recent positron emission tomography investigations found spreading oligemia in the early phases of a human migraine attack. During the headache phase, increased cerebral blood flow was found in cortical sensory association areas and unilaterally in the brainstem. The brainstem activation persisted after complete relie...
journal_title:Current opinion in neurology
pub_type: 社论,评审
doi:10.1097/00019052-199606000-00007
更新日期:1996-06-01 00:00:00
abstract:PURPOSE OF REVIEW:To summarize advances in our understanding of the clinical phenotypes, genetics, and molecular pathophysiology of the periodic paralyses, the nondystrophic myotonias, and other muscle channelopathies. RECENT FINDINGS:The number of pathogenic mutations causing periodic paralysis, nondystrophic myotoni...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32832efa8f
更新日期:2009-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Genetic discovery has been extremely rapid over the last year, with many new discoveries illuminating novel mechanisms and pathways. In particular, the application of whole exome and whole genome sequencing has identified many new genetic causes of the epilepsies. As such methods become increasingly a...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000180
更新日期:2015-04-01 00:00:00
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journal_title:Current opinion in neurology
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更新日期:2003-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Understanding the mechanisms and abnormalities of respiratory function in neuromuscular disease is critical to supporting the patient and maintaining ventilation in the face of acute or chronic progressive impairment. RECENT FINDINGS:Retrospective clinical studies reviewing the care of patients with ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2016-10-01 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::A relatively small number of studies were published on the intra-arterial therapy of stroke in the past year. Those reports, however, do offer strong evidence for the feasibility and safety of this therapeutic approach. Partly on the basis of these data it has become evident that the intra-arterial thrombolytic therap...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2000-02-01 00:00:00
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32836085f4
更新日期:2013-06-01 00:00:00
abstract::The motoneuron has a strong ability to regenerate after injury. However, the problems of nerve cell survival after a proximal axotomy, difficulty in axonal elongation after intraspinal lesion and the lack of target specificity during nerve fibre regrowth interfere with a good functional restitution. Current research h...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2000-12-01 00:00:00
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199612000-00006
更新日期:1996-12-01 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
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199802000-00002
更新日期:1998-02-01 00:00:00
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2016-08-01 00:00:00
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2014-08-01 00:00:00
abstract:PURPOSE OF REVIEW:This review describes the pathogenesis, clinical presentation, course, and therapy of herpes simplex encephalitis (HSE), the most fatal viral encephalitis, in which prognosis is dependent on early diagnosis and effective therapy. RECENT FINDINGS:Herpes simplex viruses types 1 and 2 (HSV-1 and HSV-2) ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328346be6f
更新日期:2011-06-01 00:00:00