K
Katrin Finsterwalder
Researcher at University of Kiel
Publications - 3
Citations - 465
Katrin Finsterwalder is an academic researcher from University of Kiel. The author has contributed to research in topics: Epilepsy & Rolandic epilepsy. The author has an hindex of 3, co-authored 3 publications receiving 414 citations.
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R. Lemke,Dennis Lal,Eva M. Reinthaler,Isabelle Steiner,Michael Nothnagel,Michael Alber,Kirsten Geider,Bodo Laube,Michael Schwake,Katrin Finsterwalder,Andre Franke,Markus Schilhabel,Johanna A. Jähn,Hiltrud Muhle,Rainer Boor,Wim Van Paesschen,Roberto Caraballo,Natalio Fejerman,Sarah Weckhuysen,Peter De Jonghe,Jan Larsen,Rikke S. Møller,Helle Hjalgrim,Laura Addis,Shan Tang,Elaine Hughes,Deb K. Pal,Kadi Veri,Ulvi Vaher,Tiina Talvik,Petia Dimova,Rosa Guerrero López,José M. Serratosa,Tarja Linnankivi,Anna-Elina Lehesjoki,Susanne Ruf,Markus Wolff,Sarah E. Buerki,Gabriele Wohlrab,Judith Kroell,Alexandre N. Datta,Barbara Fiedler,Gerhard Kurlemann,Gerhard Kluger,Andreas Hahn,D Edda Haberlandt,Christina Kutzer,Jürgen Sperner,Felicitas Becker,Yvonne G. Weber,Martha Feucht,Hannelore Steinböck,Birgit Neophythou,Gabriel M. Ronen,Ursula Gruber-Sedlmayr,Julia Geldner,Robert J. Harvey,Per Hoffmann,Per Hoffmann,Stefan Herms,Stefan Herms,Janine Altmüller,Mohammad R. Toliat,Holger Thiele,Peter Nürnberg,Christian Wilhelm,Ulrich Stephani,Ingo Helbig,Holger Lerche,Fritz Zimprich,Bernd A. Neubauer,Saskia Biskup,Saskia Biskup,Sarah von Spiczak +73 more
TL;DR: Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.
Journal ArticleDOI
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
Constanze Reutlinger,Ingo Helbig,Barbara Gawelczyk,Jose Ignacio Martin Subero,Holger Tönnies,Hiltrud Muhle,Katrin Finsterwalder,Sascha Vermeer,Rolph Pfundt,Jürgen Sperner,Irina Stefanova,Gabriele Gillessen-Kaesbach,Sarah von Spiczak,Andreas van Baalen,Rainer Boor,Reiner Siebert,Ulrich Stephani,Almuth Caliebe +17 more
TL;DR: Three patients with intellectual disability, various dysmorphic features, and epilepsies involving the rolandic region, carrying previously undescribed deletions in 16p13 are reported on.
Journal ArticleDOI
Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach.
Sarah von Spiczak,Katrin Finsterwalder,Hiltrud Muhle,Andre Franke,Markus Schilhabel,Ulrich Stephani,Ingo Helbig +6 more
TL;DR: Even though the mutation analysis failed to demonstrate direct involvement of GRIN2A in photosensitivity, in silico gene prioritization may provide a useful tool for the identification of candidate genes within large genomic regions.