Ao.Univ.-Prof. Dr. Fritz Zimprich, PhD

Department(s): Department of Neurology (Department of Neurology)
Position: Associate Professor
Location:
E-Mail:

Research Area:
Epilepsy, Genetics, Neuromuscular Diseases

Principle Investigator(s):

• Zimprich, Fritz (Head)

Interest Group(s):

• Epilepsy
• Neuroinflammation / Inflammatory Diseases of the Nervous System / Multiple Sclerosis
• The Neuromuscular System

Grant(s):

• Multiple rare variants in rolandic epilepsy (completed) (Responsible)
• The role of allele-polymorhisms in the PDYN gene in epilepsies (completed) (Responsible)
• The role of calciumsignals and opioids in temporal lobe epilepsy (completed) (Responsible)

Abstract:

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:

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.

Selected Publications:

1. Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; The 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; The EPICURE Consortium, The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. (2014) 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy Hum Mol Genet,
2. Lemke J, Lal D, Reinthaler E, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn J, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller R, Hjalgrim H, Addis L, Tang S, Hughes E, Pal D, Veri K, Vaher U, Talvik T, Dimova P, López R, Serratosa J, Linnankivi T, Lehesjoki A, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta A, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt D, Kutzer C, Sperner J, Becker F, Weber Y, Feucht M, Steinböck H, Neophythou B, Ronen G, Gruber-Sedlmayr U, Geldner J, Harvey R, Hoffmann P, Herms S, Altmüller J, Toliat M, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer B, Biskup S, von Spiczak S (2013) Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes Nat Genet, 45 (9): 1067-1072
3. Zach H, Cetin H, Hilger E, Paul A, Wuschitz B, Jung R, Auff E, Zimprich F (2013) The effect of early prednisolone treatment on the generalization rate in ocular myasthenia gravis Eur J Neurol, 20 (4): 708-713
4. Hilger E, Reinthaler E, Stogmann E, Hotzy C, Pataraia E, Baumgartner C, Zimprich A, Zimprich F (2012) Lack of association between ABCC2 gene variants and treatment response in epilepsy Pharmacogenomics, 13 (2): 185-190
5. Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller J, Illig T, Wichmann H, Lichtner P, Meitinger T, Strom T, Zimprich A, Zimprich F (2009) A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures Neurology, 72 (11): 974-978

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