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@ARTICLE{Burgunder:136043,
      author       = {Burgunder, J-M and Finsterer, J. and Szolnoki, Z. and
                      Fontaine, B. and Baets, J. and Van Broeckhoven, C. and Di
                      Donato, S. and De Jonghe, P. and Lynch, T. and Mariotti, C.
                      and Schöls, L. and Spinazzola, A. and Tabrizi, S. J. and
                      Tallaksen, C. and Zeviani, M. and Harbo, H. F. and Gasser,
                      T. and EFNS},
      title        = {{EFNS} guidelines on the molecular diagnosis of
                      channelopathies, epilepsies, migraine, stroke, and
                      dementias.},
      journal      = {European journal of neurology},
      volume       = {17},
      number       = {5},
      issn         = {1351-5101},
      address      = {Oxford},
      publisher    = {Blackwell Science78889},
      reportid     = {DZNE-2020-02365},
      pages        = {641-648},
      year         = {2010},
      abstract     = {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.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.},
      keywords     = {Channelopathies: diagnosis / Channelopathies: epidemiology
                      / Channelopathies: genetics / Dementia: diagnosis /
                      Dementia: epidemiology / Dementia: genetics / Epilepsy:
                      diagnosis / Epilepsy: epidemiology / Epilepsy: genetics /
                      Europe: epidemiology / Evidence-Based Medicine / Humans /
                      Infant, Newborn / Migraine Disorders: diagnosis / Migraine
                      Disorders: epidemiology / Migraine Disorders: genetics /
                      Molecular Biology: methods / Molecular Biology: standards /
                      Molecular Biology: trends / Molecular Diagnostic Techniques:
                      methods / Molecular Diagnostic Techniques: standards /
                      Molecular Diagnostic Techniques: trends / Societies,
                      Medical: standards / Societies, Medical: trends / Stroke:
                      diagnosis / Stroke: epidemiology / Stroke: genetics},
      cin          = {AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:20298421},
      doi          = {10.1111/j.1468-1331.2010.02985.x},
      url          = {https://pub.dzne.de/record/136043},
}