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

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.

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European Handbook of Neurological Management, Volume 2, Second Edition