Yvonne G. Weber

Overview

Best Publications

• Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.

  Blumcke I;Spreafico R;Haaker G;Coras R

  905
  Citations

• 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

  Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  667
  Citations

• Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

  Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

  516
  Citations

• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

  Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

  501
  Citations

• Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

  Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  470
  Citations

• Seizure control and treatment in pregnancy: Observations from the EURAP epilepsy pregnancy registry

  Torbjörn Tomson;D. Battino;E. Bonizzoni;J. Craig

  408
  Citations

• Targeted next generation sequencing as a diagnostic tool in epileptic disorders

  Johannes R. Lemke;Erik Riesch;Tim Scheurenbrand;Max Schubach

  397
  Citations

• GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

  Yvonne G. Weber;Alexander Storch;Thomas V. Wuttke;Knut Brockmann

  392
  Citations

• Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

  Arvid Suls;Peter Dedeken;Karolien Goffin;Hilde Van Esch

  392
  Citations

• De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

  Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  337
  Citations

• Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

  Arvid Suls;Saul A. Mullen;Yvonne G. Weber;Kristien Verhaert

  308
  Citations

• De novo variants in neurodevelopmental disorders with epilepsy.

  Henrike O. Heyne;Tarjinder Singh;Tarjinder Singh;Hannah Stamberger;Rami Abou Jamra

  307
  Citations

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  263
  Citations

• De novo mutations in HCN1 cause early infantile epileptic encephalopathy

  Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  262
  Citations

• A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

  Snezana Maljevic;Klaus Krampfl;Joana Cobilanschi;Nikola Tilgen

  259
  Citations

• Transcutaneous Vagus Nerve Stimulation (tVNS) for Treatment of Drug-Resistant Epilepsy: A Randomized, Double-Blind Clinical Trial (cMPsE02).

  S. Bauer;S. Bauer;H. Baier;C. Baumgartner;K. Bohlmann

  252
  Citations

• Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

  Julian Schubert;Aleksandra Siekierska;Mélanie Langlois;Patrick May

  222
  Citations

• A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation

  Paul Boon;Kristl Vonck;Kenou van Rijckevorsel;Riem El Tahry

  210
  Citations

• Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

  Dalia Kasperavičiūtė;Claudia B. Catarino;Claudia B. Catarino;Mar Matarin;Costin Leu

  195
  Citations

• Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

  Elena Gardella;Felicitas Becker;Rikke S. Møller;Julian Schubert

  194
  Citations

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  33
  Citations