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000136043 0247_ $$2doi$$a10.1111/j.1468-1331.2010.02985.x
000136043 0247_ $$2pmid$$apmid:20298421
000136043 0247_ $$2ISSN$$a1351-5101
000136043 0247_ $$2ISSN$$a1468-1331
000136043 0247_ $$2ISSN$$a1471-0552
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000136043 037__ $$aDZNE-2020-02365
000136043 041__ $$aEnglish
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000136043 1001_ $$0P:(DE-HGF)0$$aBurgunder, J-M$$b0$$eCorresponding author
000136043 245__ $$aEFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
000136043 260__ $$aOxford$$bBlackwell Science78889$$c2010
000136043 264_1 $$2Crossref$$3online$$bWiley$$c2010-03-09
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000136043 520__ $$aThese EFNS guidelines on the molecular diagnosis of channelopathies, including epilepsy and migraine, as well as stroke, and dementia are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated.To collect data about planning, conditions, and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers, and guideline recommendations were reviewed.The best level of evidence for genetic testing recommendation (B) can be found for a small number of syndromes, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, severe myoclonic epilepsy of infancy, familial recurrent hemorrhages, familial Alzheimer's disease, and frontotemporal lobar degeneration. Good practice points can be formulated for a number of other disorders.These guidelines are provisional, and the future availability of molecular genetic epidemiological data about the neurogenetic disorders under discussion in our article will allow improved recommendation with an increased level of evidence.
000136043 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
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000136043 650_2 $$2MeSH$$aChannelopathies: diagnosis
000136043 650_2 $$2MeSH$$aChannelopathies: epidemiology
000136043 650_2 $$2MeSH$$aChannelopathies: genetics
000136043 650_2 $$2MeSH$$aDementia: diagnosis
000136043 650_2 $$2MeSH$$aDementia: epidemiology
000136043 650_2 $$2MeSH$$aDementia: genetics
000136043 650_2 $$2MeSH$$aEpilepsy: diagnosis
000136043 650_2 $$2MeSH$$aEpilepsy: epidemiology
000136043 650_2 $$2MeSH$$aEpilepsy: genetics
000136043 650_2 $$2MeSH$$aEurope: epidemiology
000136043 650_2 $$2MeSH$$aEvidence-Based Medicine
000136043 650_2 $$2MeSH$$aHumans
000136043 650_2 $$2MeSH$$aInfant, Newborn
000136043 650_2 $$2MeSH$$aMigraine Disorders: diagnosis
000136043 650_2 $$2MeSH$$aMigraine Disorders: epidemiology
000136043 650_2 $$2MeSH$$aMigraine Disorders: genetics
000136043 650_2 $$2MeSH$$aMolecular Biology: methods
000136043 650_2 $$2MeSH$$aMolecular Biology: standards
000136043 650_2 $$2MeSH$$aMolecular Biology: trends
000136043 650_2 $$2MeSH$$aMolecular Diagnostic Techniques: methods
000136043 650_2 $$2MeSH$$aMolecular Diagnostic Techniques: standards
000136043 650_2 $$2MeSH$$aMolecular Diagnostic Techniques: trends
000136043 650_2 $$2MeSH$$aSocieties, Medical: standards
000136043 650_2 $$2MeSH$$aSocieties, Medical: trends
000136043 650_2 $$2MeSH$$aStroke: diagnosis
000136043 650_2 $$2MeSH$$aStroke: epidemiology
000136043 650_2 $$2MeSH$$aStroke: genetics
000136043 7001_ $$0P:(DE-HGF)0$$aFinsterer, J.$$b1
000136043 7001_ $$0P:(DE-HGF)0$$aSzolnoki, Z.$$b2
000136043 7001_ $$0P:(DE-HGF)0$$aFontaine, B.$$b3
000136043 7001_ $$0P:(DE-HGF)0$$aBaets, J.$$b4
000136043 7001_ $$0P:(DE-HGF)0$$aVan Broeckhoven, C.$$b5
000136043 7001_ $$0P:(DE-HGF)0$$aDi Donato, S.$$b6
000136043 7001_ $$0P:(DE-HGF)0$$aDe Jonghe, P.$$b7
000136043 7001_ $$0P:(DE-HGF)0$$aLynch, T.$$b8
000136043 7001_ $$0P:(DE-HGF)0$$aMariotti, C.$$b9
000136043 7001_ $$0P:(DE-HGF)0$$aSchöls, L.$$b10
000136043 7001_ $$0P:(DE-HGF)0$$aSpinazzola, A.$$b11
000136043 7001_ $$0P:(DE-HGF)0$$aTabrizi, S. J.$$b12
000136043 7001_ $$0P:(DE-HGF)0$$aTallaksen, C.$$b13
000136043 7001_ $$0P:(DE-HGF)0$$aZeviani, M.$$b14
000136043 7001_ $$0P:(DE-HGF)0$$aHarbo, H. F.$$b15
000136043 7001_ $$0P:(DE-2719)2320009$$aGasser, T.$$b16$$eLast author
000136043 7001_ $$0P:(DE-HGF)0$$aEFNS$$b17
000136043 77318 $$2Crossref$$3journal-article$$a10.1111/j.1468-1331.2010.02985.x$$b : Wiley, 2010-03-09$$n5$$p641-648$$tEuropean Journal of Neurology$$v17$$x1351-5101$$y2010
000136043 773__ $$0PERI:(DE-600)2020241-6$$a10.1111/j.1468-1331.2010.02985.x$$gVol. 17, no. 5, p. 641 - 648$$n5$$p641-648$$q17:5<641 - 648$$tEuropean journal of neurology$$v17$$x1351-5101$$y2010
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