Wieser
Fakultäten » Medizinische Fakultät » Neurologie, Klinik für » Prof. Dr. Heinz-Gregor Wieser (emeritiert) » Wieser
Completed research project
| Title / Titel | Genetics of epilepsy | ||||||
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| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | RES107026 GenEpA-CH Study: A Case-control Study for Genotype-Phenotype Associations in Caucasians with Temporal Lobe Epilepsy Primary Study Objective: To identify DNA sequence variations (genotype) which differ between study subjects with and without a specified phenotype of epilepsy (temporal lobe epilepsy (TLE) in particular mesial temporal lobe epilepsy (MTLE) with hippocampal sclerosis (HS) Secondary Study Objectives: (1) To develop a clinical dataset including measures of 500 well-characterised Caucasian epilepsy patients with TLE and 500 ethnicity-matched controls that serve as basis for (1a) a confirmatory cohort for targeted genotyping in an identical study performed in Kuopio (Finland), (1b) future collaborative reserach projects between the National Centre of Competence in Research in Neuroscience (NCCR-N) and GlaxoSmithKline (GSK), specifically with regard to tenomic evaluation of brain tissue specimen from patients who underwent epilepsy surgery. (2) To identify other genotype-phenotype associations in epilepsy study subjects such as factors contributing to (2a) febrile seizures, (2b) age of onset, (2c)EEG findings, (2d) MRI findings, and (2e) response to antiepileptic medications. Recruitment, Eligibility, Monitoring and Data Management has been sucessfully terminated at the University Zurich site on Nov 12, 2007 (Close-out visit). Research Plan: A research grant proposal to the Wellcome Trust has been submitted (we are not expecting a decision until late 2007, probably early 2008). GSK decided to move independently with Duke University to be able to honour GSKs commitment to the WT consortium, regardless of the outcome of our collaborative proposal. In essence GSK will pay for genotyping on approx. 1300 of the GenEpA samples. On contract signature GSK would transfer coded, aliquoted DNA samples, sufficient to allow this work to Duke for plating. Duke would undertake to genotype the samples on the Illumina 550 chip and provide all Illumina raw data (pre and post beadstudio QC) to GSK within 6 months of receipt of the samples. GSK will provide the data to members of the GenEpA consortium for collaborative research work (as long as contracted and consent allows). |
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| Publications / Publikationen | No publications until now | ||||||
| Keywords / Suchbegriffe | Genetics of epilepsy, Genotype-Phenotype Associations, Mesial temporal lobe epilepsy (MTLE), Hippocampal sclerosis (HS), | ||||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Private Sector (e.g. Industry) |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Mar 2006 to Aug 2008 |