7. Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias

  1. Nils Erik Gilhus MD, PHD17,18,
  2. Michael P. Barnes MD, FRCP19,20 and
  3. Michael Brainin MD21,22,23
  1. J-M. Burgunder1,
  2. J. Finsterer2,
  3. Z. Szolnoki3,
  4. B. Fontaine4,
  5. J. Baets5,6,7,
  6. C. Van Broeckhoven6,7,
  7. S. Di Donato8,
  8. P. De Jonghe5,6,7,
  9. T. Lynch9,
  10. C. Mariotti10,
  11. L. Schöls11,
  12. A. Spinazzola12,
  13. S. J. Tabrizi13,
  14. C. Tallaksen14,15,
  15. M. Zeviani12,
  16. H. F. Harbo15 and
  17. T. Gasser16

Published Online: 21 SEP 2011

DOI: 10.1002/9781444346268.ch7

European Handbook of Neurological Management, Volume 2, Second Edition

European Handbook of Neurological Management, Volume 2, Second Edition

How to Cite

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. and Gasser, T. (2011) Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias, in European Handbook of Neurological Management, Volume 2, Second Edition (eds N. E. Gilhus, M. P. Barnes and M. Brainin), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444346268.ch7

Editor Information

  1. 17

    Department of Clinical Medicine, University of Bergen, Norway

  2. 18

    Department of Neurology, Haukeland University Hospital, Bergen, Norway

  3. 19

    University of Newcastle, Newcastle upon Tyne, UK

  4. 20

    Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK

  5. 21

    Department of Clinical Medicine and Prevention, Austria

  6. 22

    Center for Clinical Neurosciences, Donau-Universität Krems, Austria

  7. 23

    Department of Neurology, Landesklinikum Donauregion Tulln, Tulln, Austria

Author Information

  1. 1

    University of Bern, Bern, Switzerland

  2. 2

    KA Rudolfstiftung, Vienna, and Danube University Krems, Austria

  3. 3

    Pandy County Hospital, Gyula, Hungary

  4. 4

    Assistance Publique-Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié-Salpêtrière, Paris, France

  5. 5

    University Hospital of Antwerp, Antwerp, Belgium

  6. 6

    VIB, Antwerp, Belgium

  7. 7

    Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerp, Belgium

  8. 8

    Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy

  9. 9

    The Dublin Neurological Institute, Mater Misericordiae University, Beaumont and Mater Private Hospitals, Dublin, Ireland

  10. 10

    Unit of Genetic of Neurodegenerative and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy

  11. 11

    Centre of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany

  12. 12

    Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy

  13. 13

    Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK

  14. 14

    Ullevål University Hospital, Oslo, Norway

  15. 15

    Oslo University Hospital, Ullevål, Oslo, Norway

  16. 16

    Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany

Publication History

  1. Published Online: 21 SEP 2011
  2. Published Print: 30 SEP 2011

ISBN Information

Print ISBN: 9781405185349

Online ISBN: 9781444346268



  • molecular diagnosis of channelopathies-epilepsies, migraine, stroke and dementias;
  • muscular channelopathies-hypokalaemic periodic paralysis, an autosomal dominantly hereditary disease and episodic muscle paralysis;
  • channelopathies, ion channels-fluxes between intra- and extracellular spaces;
  • neurological channelopathies;
  • cerebral autosomal dominant arteriopathy-with subcortical infarcts, and leukencephalopathy;
  • amyloid angiopathies, cerebral amyloid angiopathy (CAA)-Dutch type, point mutation within amyloid precursor protein (APP) gene;
  • migraine, familial hemiplegic migraine (FHM)-inherited in autosomal dominant way;
  • genetics of hereditary dementias;
  • fronto-temporal lobar degeneration-heterogeneous group of FTLD disorders;
  • Alzheimer's disease-common type of primary degenerative dementia


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 the planning, conditions and performance of molecular diagnosis of these disorders, a literature search of 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 (Level 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 haemorrhages, 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 availability of molecular-genetic epidemiological data in the future about the neurogenetic disorders under discussion will allow improved recommendation with an increased level of evidence.