EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias: EFNS GUIDELINES/CME ARTICLE

J. M. Burgunder, J. Finsterer, Z. Szolnoki, B. Fontaine, J. Baets, C. Van Broeckhoven, S. Di Donato, P. De Jonghe, T. Lynch, C. Mariotti, L. Schöls, A. Spinazzola, S. J. Tabrizi, C. Tallaksen, M. Zeviani, H. F. Harbo, T. Gasser

Research output: Contribution to journalReview article

13 Citations (Scopus)

Abstract

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'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.

Original languageEnglish
Pages (from-to)641-648
Number of pages8
JournalEuropean Journal of Neurology
Volume17
Issue number5
DOIs
Publication statusPublished - May 1 2010

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Keywords

  • Channelopathies
  • EFNS task force
  • Migraine
  • Molecular diagnosis
  • Neurogenetic
  • Stroke

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Burgunder, J. M., Finsterer, J., Szolnoki, Z., Fontaine, B., Baets, J., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C., Schöls, L., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., & Gasser, T. (2010). EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias: EFNS GUIDELINES/CME ARTICLE. European Journal of Neurology, 17(5), 641-648. https://doi.org/10.1111/j.1468-1331.2010.02985.x