Journal Article

DZNE-2020-02365

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

Burgunder, J.-M. (Corresponding author) ; 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, S. J. ; Tallaksen, C. ; Zeviani, M. ; Harbo, H. F. ; Gasser, T. (Last author)DZNE* ; EFNS

2010
Blackwell Science78889 Oxford

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Please use a persistent id in citations: doi:10.1111/j.1468-1331.2010.02985.x

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.

Keyword(s): Channelopathies: diagnosis (MeSH) ; Channelopathies: epidemiology (MeSH) ; Channelopathies: genetics (MeSH) ; Dementia: diagnosis (MeSH) ; Dementia: epidemiology (MeSH) ; Dementia: genetics (MeSH) ; Epilepsy: diagnosis (MeSH) ; Epilepsy: epidemiology (MeSH) ; Epilepsy: genetics (MeSH) ; Europe: epidemiology (MeSH) ; Evidence-Based Medicine (MeSH) ; Humans (MeSH) ; Infant, Newborn (MeSH) ; Migraine Disorders: diagnosis (MeSH) ; Migraine Disorders: epidemiology (MeSH) ; Migraine Disorders: genetics (MeSH) ; Molecular Biology: methods (MeSH) ; Molecular Biology: standards (MeSH) ; Molecular Biology: trends (MeSH) ; Molecular Diagnostic Techniques: methods (MeSH) ; Molecular Diagnostic Techniques: standards (MeSH) ; Molecular Diagnostic Techniques: trends (MeSH) ; Societies, Medical: standards (MeSH) ; Societies, Medical: trends (MeSH) ; Stroke: diagnosis (MeSH) ; Stroke: epidemiology (MeSH) ; Stroke: genetics (MeSH)

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2010

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Database coverage:
; BIOSIS Previews ; Current Contents - Clinical Medicine ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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