Epilepsy; Genetics; Neuromuscular Diseases
Our research interests focus on the identification of genetic risk factors underlying epilepsies. Only a small proportion of the heritability can be attributed to known Mendelian (monogenic) disorders. The vast majority of the heritability is still unknown and thought to be caused by either common or rare genetic variants with smaller effect sizes. The ultimate goal will be to identify these risk factors and to understand the complex genetic architecture of common epilepsies. To achieve this goal we genotype and sequence candidate genes or whole genomes/exomes of patients with epilepsies.
Techniques, methods & infrastructure
State of the art genotyping (various techniques including SNP-arrays), conventional Sanger sequencing as well as next generation sequencing methods. A large part of the work includes recruiting and clinically characterizing patients.
- Multiple rare variants in rolandic epilepsy (2010)
Source of Funding: FWF (Austrian Science Fund), International Programmes: EUROCORES; EuroEPINOMICS
- The role of allele-polymorhisms in the PDYN gene in epilepsies (1999)
Source of Funding: OeNB (Oesterreichische Nationalbank), Anniversary Fund
- The role of calciumsignals and opioids in temporal lobe epilepsy (1998)
Source of Funding: FWF (Austrian Science Fund), Stand-Alone Projects
- Reinthaler, E.M. et al., 2014. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human Molecular Genetics, 23(22), pp.6069-6080. Available at: http://dx.doi.org/10.1093/hmg/ddu306.
- Lemke, J.R. et al., 2013. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet, 45(9), pp.1067-1072. Available at: http://dx.doi.org/10.1038/ng.2728.
- Rath, J. et al., 2017. Iodinated contrast agents in patients with myasthenia gravis: a retrospective cohort study. Journal of Neurology, 264(6), pp.1209-1217. Available at: http://dx.doi.org/10.1007/s00415-017-8518-8.
- Reinthaler, E.M. et al., 2015. Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Annals of Neurology, 77(6), pp.972-986. Available at: http://dx.doi.org/10.1002/ana.24395.
- Schlachter, K. et al., 2009. A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology, 72(11), pp.974-978. Available at: http://dx.doi.org/10.1212/01.wnl.0000344401.02915.00.