EFNS指南:离子通道病、癫痫、偏头痛、卒中和痴呆的分子诊断

2010-01-01 欧洲神经科学协会联盟 European Journal of Neurology 2010, 17: 641–648

中文标题:

EFNS指南:离子通道病、癫痫、偏头痛、卒中和痴呆的分子诊断

英文标题:

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

发布日期:

2010-01-01

简要介绍:

Objectives: These EFNS guidelines on the molecular diagnosis of channelopathies, including epilepsy and migraine, as well as stroke, and dementia are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated. Search strategy: To collect data about planning, conditions, and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers, and guideline recommendations were reviewed. Results: The best level of evidence for genetic testing recommendation (B) can be found for a small number of syndromes, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, severe myoclonic epilepsy of infancy, familial recurrent hemorrhages, familial Alzheimer[1]s disease, and frontotemporal lobar degeneration. Good practice points can be formulated for a number of other disorders. Conclusion: These guidelines are provisional, and the future availability of molecular genetic epidemiological data about the neurogenetic disorders under discussion in our article will allow improved recommendation with an increased level of evidence

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