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.
| Original language | English |
|---|---|
| Pages (from-to) | 641-648 |
| Number of pages | 8 |
| Journal | European Journal of Neurology |
| Volume | 17 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 2010 |
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Keywords
- Channelopathies
- EFNS task force
- Migraine
- Molecular diagnosis
- Neurogenetic
- Stroke
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias : EFNS GUIDELINES/CME ARTICLE. / Burgunder, 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, S. J.; Tallaksen, C.; Zeviani, M.; Harbo, H. F.; Gasser, T.
In: European Journal of Neurology, Vol. 17, No. 5, 05.2010, p. 641-648.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias
T2 - EFNS GUIDELINES/CME ARTICLE
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.
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
KW - Channelopathies
KW - EFNS task force
KW - Migraine
KW - Molecular diagnosis
KW - Neurogenetic
KW - Stroke
UR - http://www.scopus.com/inward/record.url?scp=77950898733&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77950898733&partnerID=8YFLogxK
U2 - 10.1111/j.1468-1331.2010.02985.x
DO - 10.1111/j.1468-1331.2010.02985.x
M3 - Article
C2 - 20298421
AN - SCOPUS:77950898733
VL - 17
SP - 641
EP - 648
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 5
ER -