lunes, 26 de diciembre de 2011

National Guideline Clearinghouse | EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke and dementias.

Guideline Title

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

Bibliographic Source(s)

Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schols L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T, European Federation of Neurological Societies. EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. Eur J Neurol 2010 May;17(5):641-8. [28 references] PubMed External Web Site Policy

Guideline Status

This is the current release of the guideline.

full-text:
National Guideline Clearinghouse EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke and dementias.

Eur J Neurol. 2010 May;17(5):641-8. Epub 2010 Mar 9.

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

Burgunder JM, 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; EFNS.

Source

Department of Neurology, University of Bern, Bern, Switzerland. Jean-marc.burgunder@dkf.unibe.ch

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.