Ortrud K. Steinlein

Overview

Best Publications

• A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

  Ortrud K. Steinlein;John C. Mulley;Peter Propping;Robyn H. Wallace;Robyn H. Wallace

  1369
  Citations

• A Potassium Channel Mutation in Neonatal Human Epilepsy

  Christian Biervert;Björn C. Schroeder;Björn C. Schroeder;Björn C. Schroeder;Christian Kubisch;Christian Kubisch;Christian Kubisch;Samuel F. Berkovic;Samuel F. Berkovic;Samuel F. Berkovic

  1358
  Citations

• An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

  Ortrud K. Steinlein;Andres Magnusson;Jens Stoodt;Sonia Bertrand

  430
  Citations

• A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

  Colette Kananura;Karsten Haug;Thomas Sander;Uwe Runge

  381
  Citations

• Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

  Samuel F. Berkovic;Sarah E. Heron;Lucio Giordano;Carla Marini

  361
  Citations

• Genetic mechanisms that underlie epilepsy

  Ortrud K Steinlein

  346
  Citations

• Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

  Karin Dedek;Bernhard Kunath;Colette Kananura;Ulrike Reuner

  339
  Citations

• Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis

  G. Fernández;O. Effenberger;B. Vinz;O. Steinlein

  334
  Citations

• LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.

  Wenli Gu;Eylert Brodtkorb;Ortrud K. Steinlein

  227
  Citations

• An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics

  Sigrid Weiland;Veit Witzemann;Alfredo Villarroel;Peter Propping

  218
  Citations

• Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

  Jan Senderek;Jan Senderek;Juliane S. Müller;Marina Dusl;Tim M. Strom

  194
  Citations

• Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine.

  Fabienne Picard;S Bertrand;O K Steinlein;Daniel Bertrand

  187
  Citations

• A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.

  H. Lerche;C. Biervert;A. K. Alekov;L. Schleithoff

  185
  Citations

• Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

  S Bertrand;S Weiland;S F Berkovic;O K Steinlein

  184
  Citations

• DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

  Fabienne Picard;Periklis Makrythanasis;Vincent Navarro;Saeko Ishida

  164
  Citations

• Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

  Karin Dedek;Lucia Fusco;Nicole Teloy;Ortrud K Steinlein

  147
  Citations

• Ion channels and epilepsy in man and mouse

  Ortrud K Steinlein;Jeffrey L Noebels

  144
  Citations

• Expression pattern and functional characteristics of two novel splice variants of the two-pore-domain potassium channel TREK-2

  Wenli Gu;Günter Schlichthörl;Jochen R. Hirsch;Hartmut Engels

  143
  Citations

• Characterization of Human α4β2-Nicotinic Acetylcholine Receptors Stably and Heterologously Expressed in Native Nicotinic Receptor-Null SH-EP1 Human Epithelial Cells

  J. Brek Eaton;Jian Hong Peng;Katherine M. Schroeder;Andrew A. George

  142
  Citations

• Cellular and extracellular miRNAs are blood-compartment-specific diagnostic targets in sepsis.

  Marlene Reithmair;Dominik Buschmann;Dominik Buschmann;Melanie Märte;Benedikt Kirchner

  137
  Citations

• Benign familial neonatal convulsions: always benign?

  O.K. Steinlein;C. Conrad;B. Weidner

  129
  Citations