Fokale genetisch bedingte Epilepsiesyndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-05

AUTHORS

Bernd A. Neubauer, Andreas Hahn

ABSTRACT

In der Aufklärung fokaler genetisch bedingter Epilepsiesyndrome wurden in den letzten drei Jahren große Fortschritte erzielt. So wurden Defekte im DEPDC5-Gen, welches ein Protein codiert, das Bestandteil des GATOR1-Komplexes ist, der wiederum eine wichtige Rolle im mTOR-Signalweg spielt, als Ursache fokaler Epilepsien identifiziert. Interessanterweise wurden DEPDC5-Mutationen sowohl bei Kindern mit Rolando-Epilepsie als auch bei Patienten mit kortikalen Dysplasien gefunden. Bei der autosomal dominanten lateralen Temporallappenepilepsie wurde Reelin als ursächliches Gen in 17,5 % der untersuchten Familien identifiziert. Durch Metaanalyse mehrerer großer genomweiter Assoziationsstudien konnte belegt werden, dass Mutationen im SCN1A-Gen bedeutsam sind für die Entstehung häufiger fokaler und generalisierter Epilepsien. Zudem wurde gezeigt, dass auch Mutationen im SCN3A-Gen selten ursächlich für die Entstehung fokaler Epilepsien sein können. In einer Reihe von Studien, die sich mit den genetischen Ursachen bei typischer und atypischer Rolando-Epilepsie befasst haben, konnte nachgewiesen werden, dass Mutationen in den Genen GRIN2A, RBFOX1, RBFOX3 und DEPDC5 sowie eine bestimmte Copy Number Variation (CNV 16p11.2) bei insgesamt 12 % der Patienten pathogenetisch bedeutsam sind. Einzelne der identifizierten Genprodukte sind pharmakologisch beeinflussbar. More... »

PAGES

57-62

Journal

TITLE

Zeitschrift für Epileptologie

ISSUE

2

VOLUME

29

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10309-015-0032-3

DOI

http://dx.doi.org/10.1007/s10309-015-0032-3

DIMENSIONS

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49 schema:description In der Aufklärung fokaler genetisch bedingter Epilepsiesyndrome wurden in den letzten drei Jahren große Fortschritte erzielt. So wurden Defekte im DEPDC5-Gen, welches ein Protein codiert, das Bestandteil des GATOR1-Komplexes ist, der wiederum eine wichtige Rolle im mTOR-Signalweg spielt, als Ursache fokaler Epilepsien identifiziert. Interessanterweise wurden DEPDC5-Mutationen sowohl bei Kindern mit Rolando-Epilepsie als auch bei Patienten mit kortikalen Dysplasien gefunden. Bei der autosomal dominanten lateralen Temporallappenepilepsie wurde Reelin als ursächliches Gen in 17,5 % der untersuchten Familien identifiziert. Durch Metaanalyse mehrerer großer genomweiter Assoziationsstudien konnte belegt werden, dass Mutationen im SCN1A-Gen bedeutsam sind für die Entstehung häufiger fokaler und generalisierter Epilepsien. Zudem wurde gezeigt, dass auch Mutationen im SCN3A-Gen selten ursächlich für die Entstehung fokaler Epilepsien sein können. In einer Reihe von Studien, die sich mit den genetischen Ursachen bei typischer und atypischer Rolando-Epilepsie befasst haben, konnte nachgewiesen werden, dass Mutationen in den Genen GRIN2A, RBFOX1, RBFOX3 und DEPDC5 sowie eine bestimmte Copy Number Variation (CNV 16p11.2) bei insgesamt 12 % der Patienten pathogenetisch bedeutsam sind. Einzelne der identifizierten Genprodukte sind pharmakologisch beeinflussbar.
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