EFNS guidelines on the molecular diagnosis of channelopathies,epilepsies, migraine,stroke, and dementias |
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Authors: | 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 |
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Institution: | 1. Department of Neurology, University of Bern, Bern, Switzerland;2. KA Rudolfstiftung, Vienna and Danube University Krems, Austria;3. Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary;4. Assistance Publique‐H?pitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France;5. Department of Neurology, University Hospital of Antwerp;6. Department of Molecular Genetics, VIB;7. Laboratory of Neurogenetics, Institute Born‐Bunge, and University of Antwerp, Antwerpen, Belgium;8. Fondazione‐IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy;9. The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland;10. Unit of Genetic of Neurodegenerative and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy;11. Clinical Neurogenetics, Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany;12. Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy;13. Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK;14. Department of Neurology, Ullev?l University Hospital;15. Department of Neurology, Oslo University Hospital, Ullev?l, Oslo, Norway;16. Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany |
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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. |
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Keywords: | channelopathies EFNS task force migraine molecular diagnosis neurogenetic stroke |
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