Ao.Univ.-Prof. Dr. Fritz Zimprich, PhD
Department of Neurology
Position: Associate Professor
ORCID: 0000-0002-6998-5480
friedrich.zimprich@meduniwien.ac.at
Keywords
Epilepsy; Genetics; Neuromuscular Diseases
Research interests
Our research interests focus on the identification of genetic risk factors underlying epilepsies and neuromuscular disorders and how to translate insights gained by genetic research into the clinical (neurological) routine.
Techniques, methods & infrastructure
Systematic studies on phenotype/genotype relationships in neurogenetic disorders and studies on the optimal clinical utilization of modern genetic diagnostic techniques.
Selected publications
- Tomschik, M. et al., 2020. Subgroup Stratification and Outcome in Recently Diagnosed Generalized Myasthenia Gravis. Neurology, p.10.1212/WNL.0000000000010209. Available at: http://dx.doi.org/10.1212/WNL.0000000000010209.
- Krenn, M. et al., 2020. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. Journal of Medical Genetics, pp.jmedgenet–2019–106658. Available at: http://dx.doi.org/10.1136/jmedgenet-2019-106658.
- Krenn, M. et al., 2019. Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach. European Journal of Neurology, 27(1), pp.51–61. Available at: http://dx.doi.org/10.1111/ene.14033.
- 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.
- Lemke, J.R. et al., 2013. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9), pp.1067–1072. Available at: http://dx.doi.org/10.1038/ng.2728.