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@ARTICLE{Burgunder:136043,
author = {Burgunder, J-M and Finsterer, J. and Szolnoki, Z. and
Fontaine, B. and Baets, J. and Van Broeckhoven, C. and Di
Donato, S. and De Jonghe, P. and Lynch, T. and Mariotti, C.
and Schöls, L. and Spinazzola, A. and Tabrizi, S. J. and
Tallaksen, C. and Zeviani, M. and Harbo, H. F. and Gasser,
T. and EFNS},
title = {{EFNS} guidelines on the molecular diagnosis of
channelopathies, epilepsies, migraine, stroke, and
dementias.},
journal = {European journal of neurology},
volume = {17},
number = {5},
issn = {1351-5101},
address = {Oxford},
publisher = {Blackwell Science78889},
reportid = {DZNE-2020-02365},
pages = {641-648},
year = {2010},
abstract = {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.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.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.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.},
keywords = {Channelopathies: diagnosis / Channelopathies: epidemiology
/ Channelopathies: genetics / Dementia: diagnosis /
Dementia: epidemiology / Dementia: genetics / Epilepsy:
diagnosis / Epilepsy: epidemiology / Epilepsy: genetics /
Europe: epidemiology / Evidence-Based Medicine / Humans /
Infant, Newborn / Migraine Disorders: diagnosis / Migraine
Disorders: epidemiology / Migraine Disorders: genetics /
Molecular Biology: methods / Molecular Biology: standards /
Molecular Biology: trends / Molecular Diagnostic Techniques:
methods / Molecular Diagnostic Techniques: standards /
Molecular Diagnostic Techniques: trends / Societies,
Medical: standards / Societies, Medical: trends / Stroke:
diagnosis / Stroke: epidemiology / Stroke: genetics},
cin = {AG Gasser},
ddc = {610},
cid = {I:(DE-2719)1210000},
pnm = {345 - Population Studies and Genetics (POF3-345)},
pid = {G:(DE-HGF)POF3-345},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:20298421},
doi = {10.1111/j.1468-1331.2010.02985.x},
url = {https://pub.dzne.de/record/136043},
}