TY  - JOUR
AU  - Burgunder, J-M
AU  - Finsterer, J.
AU  - Szolnoki, Z.
AU  - Fontaine, B.
AU  - Baets, J.
AU  - Van Broeckhoven, C.
AU  - Di Donato, S.
AU  - De Jonghe, P.
AU  - Lynch, T.
AU  - Mariotti, C.
AU  - Schöls, L.
AU  - Spinazzola, A.
AU  - Tabrizi, S. J.
AU  - Tallaksen, C.
AU  - Zeviani, M.
AU  - Harbo, H. F.
AU  - Gasser, T.
AU  - EFNS
TI  - EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
JO  - European journal of neurology
VL  - 17
IS  - 5
SN  - 1351-5101
CY  - Oxford
PB  - Blackwell Science78889
M1  - DZNE-2020-02365
SP  - 641-648
PY  - 2010
AB  - 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.
KW  - Channelopathies: diagnosis
KW  - Channelopathies: epidemiology
KW  - Channelopathies: genetics
KW  - Dementia: diagnosis
KW  - Dementia: epidemiology
KW  - Dementia: genetics
KW  - Epilepsy: diagnosis
KW  - Epilepsy: epidemiology
KW  - Epilepsy: genetics
KW  - Europe: epidemiology
KW  - Evidence-Based Medicine
KW  - Humans
KW  - Infant, Newborn
KW  - Migraine Disorders: diagnosis
KW  - Migraine Disorders: epidemiology
KW  - Migraine Disorders: genetics
KW  - Molecular Biology: methods
KW  - Molecular Biology: standards
KW  - Molecular Biology: trends
KW  - Molecular Diagnostic Techniques: methods
KW  - Molecular Diagnostic Techniques: standards
KW  - Molecular Diagnostic Techniques: trends
KW  - Societies, Medical: standards
KW  - Societies, Medical: trends
KW  - Stroke: diagnosis
KW  - Stroke: epidemiology
KW  - Stroke: genetics
LB  - PUB:(DE-HGF)16
C6  - pmid:20298421
DO  - DOI:10.1111/j.1468-1331.2010.02985.x
UR  - https://pub.dzne.de/record/136043
ER  -