Project Details
Projekt
Genetics of the rare epilepsy syndromes
Applicants
Professor Dr. Ingo Helbig; Professor Dr. Felix Rosenow
Subject Area
Molecular and Cellular Neurology and Neuropathology
Term
from 2011 to 2015
Project identifier
Deutsche Forschungsgemeinschaft (DFG) - Project number 194369596
The epilepsies are common neurological disorders with a strong genetic impact. Consequently, understanding the genetic basis of seizure disorders will provide novel insights into the underlying pathophysiology and result in novel diagnostic and therapeutic avenues. This collaborative research project will focus on the Rare Epilepsy Syndromes, an umbrella term for a group of familial epilepsies and epileptic encephalopathies, many of which represent severe and therapy-resistant epilepsies. Therefore, particularly in RES, novel strategies for treatment are urgently warranted. With respect to genetic risk factors, RES often represent extreme phenotypes. Genetic risk factors are particularly abundant and might lead the way for gene identification in more common epilepsies.This Collaborative Research Project (CRP) aims to decipher the genetic basis of many RES using a multinational large-scale approach, bringing together the expertise of epileptologists with access to large patient cohorts and molecular genetic teams with a vast experience in locus and gene identification.Collectively, this team of researchers will recruit the largest cohort of patients with RES to date and, for the first time, collect comprehensive clinical, electrophysiological and genealogical data in a standardized way. Novel genes for seizure disorders will be identified in 50 large families and 500 sporadic cases using broad range of technologies including large-scale CNV analysis and next-generation sequencing techniques. These technologies will be applied in a systematic genetic workflow to streamline analysis efficiency. Finally, genotype-phenotype correlation will be performed to identify novel disease entities based on genetic findings.The interdisciplinary character and scale of this initiative comprising 10 European partners and 4 international partners is unprecedented. This CRP has the ambitious goal to identify the genetic basis in a substantial fraction of patients with Rare Epilepsy Syndromes. Therefore, we expect this CRP to represent a milestone in genetic research in seizure disorders.
DFG Programme
Research Grants
International Connection
Belgium, Estonia, Norway, Poland, Romania, Spain, Switzerland, Turkey
