K
Kirsten Geider
Researcher at Technische Universität Darmstadt
Publications - 5
Citations - 1134
Kirsten Geider is an academic researcher from Technische Universität Darmstadt. The author has contributed to research in topics: Protein subunit & Receptor. The author has an hindex of 5, co-authored 5 publications receiving 972 citations.
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Journal ArticleDOI
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Sabine Endele,Georg Rosenberger,Kirsten Geider,Bernt Popp,Ceyhun Tamer,Irina Stefanova,Mathieu Milh,Fanny Kortüm,Angela Fritsch,Friederike K. Pientka,Friederike K. Pientka,Yorck Hellenbroich,Vera M. Kalscheuer,Jürgen Kohlhase,Ute Moog,Gudrun A. Rappold,Anita Rauch,Anita Rauch,Hans-Hilger Ropers,Sarah von Spiczak,Holger Tönnies,Nathalie Villeneuve,Laurent Villard,Bernhard Zabel,Martin Zenker,Martin Zenker,Bodo Laube,André Reis,Dagmar Wieczorek,Lionel Van Maldergem,Kerstin Kutsche +30 more
TL;DR: It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.
Journal ArticleDOI
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
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Johannes R. Lemke,Rik Hendrickx,Kirsten Geider,Bodo Laube,Michael Schwake,Robert J. Harvey,Victoria M. James,Alex Pepler,Isabelle Steiner,Konstanze Hörtnagel,John Neidhardt,Susanne Ruf,Markus Wolff,Deborah Bartholdi,Roberto Caraballo,Konrad Platzer,Arvid Suls,Peter De Jonghe,Saskia Biskup,Sarah Weckhuysen +19 more
TL;DR: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations, a large number of mutations are identified using a single gene-based approach.
Journal ArticleDOI
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Johannes R. Lemke,Kirsten Geider,Katherine L. Helbig,Henrike O. Heyne,Hannah Schütz,Julia Hentschel,Carolina Courage,Christel Depienne,Caroline Nava,Delphine Héron,Rikke S. Møller,Helle Hjalgrim,Dennis Lal,Bernd A. Neubauer,Peter Nürnberg,Holger Thiele,Gerhard Kurlemann,Georgianne L. Arnold,Vikas Bhambhani,Deborah Bartholdi,Christeen Ramane J. Pedurupillay,Doriana Misceo,Eirik Frengen,Petter Strømme,Dennis J. Dlugos,Emily S. Doherty,Emilia K. Bijlsma,Claudia A. L. Ruivenkamp,Mariëtte J.V. Hoffer,Amy Goldstein,Deepa S. Rajan,Vinodh Narayanan,Keri Ramsey,Newell Belnap,Isabelle Schrauwen,Ryan Richholt,Bobby P. C. Koeleman,Joaquim Sa,Carla Mendonça,Carolien G.F. de Kovel,Sarah Weckhuysen,Katia Hardies,Peter De Jonghe,Linda De Meirleir,Mathieu Milh,Catherine Badens,Marine Lebrun,Tiffany Busa,Christine Francannet,Amélie Piton,Erik Riesch,Saskia Biskup,Heinrich Vogt,Thomas Dorn,Ingo Helbig,Jacques L. Michaud,Bodo Laube,Steffen Syrbe +57 more
TL;DR: De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features.
Journal ArticleDOI
The N-terminal domain of the GluN3A subunit determines the efficacy of glycine-activated NMDA receptors.
Ivana Mesic,Ivana Mesic,Christian Madry,Kirsten Geider,Max Bernhard,Heinrich Betz,Bodo Laube,Bodo Laube +7 more
TL;DR: Results show that the GluN3A NTD constitutes a crucial regulatory determinant of Glu n-methyl-d-aspartate receptors function as excitatory glycine receptors that respond to agonist application only with a very low efficacy.