EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

TitleEFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
Publication TypeJournal Article
Year of Publication2010
AuthorsBurgunder, 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, SJ, Tallaksen, C, Zeviani, M, Harbo, HF, Gasser, T
Corporate Authors
JournalEur J Neurol
Volume17
Issue5
Pagination641-8
Date Published2010 May
ISSN1468-1331
KeywordsChannelopathies, Dementia, Epilepsy, Europe, Evidence-Based Medicine, Humans, Infant, Newborn, Migraine Disorders, Molecular Biology, Molecular Diagnostic Techniques, Societies, Medical, Stroke
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.

DOI10.1111/j.1468-1331.2010.02985.x
Alternate JournalEur. J. Neurol.
Citation Key10.1111/j.1468-1331.2010.02985.x
PubMed ID20298421