Stéphanie Baulac

Overview

Best Publications

• Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

  Andrew Escayg;Bryan T. MacDonald;Miriam H. Meisler;Stéphanie Baulac

  1269
  Citations

• First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

  Stéphanie Baulac;Gilles Huberfeld;Isabelle Gourfinkel-An;Georgia Mitropoulou

  1024
  Citations

• Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

  C Depienne;O Trouillard;C Saint-Martin;I Gourfinkel-An

  415
  Citations

• The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

  Unknown

  390
  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

• Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

  Sara Baldassari;Théo Ribierre;Elise Marsan;Homa Adle-Biassette

  331
  Citations

• A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

  Stéphanie Baulac;Isabelle Gourfinkel-An;Fabienne Picard;Fabienne Picard;Myriam Rosenberg-Bourgin

  306
  Citations

• Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

  Stéphanie Baulac;Saeko Ishida;Elise Marsan;Catherine Miquel

  305
  Citations

• Mutations of DEPDC5 cause autosomal dominant focal epilepsies

  Saeko Ishida;Fabienne Picard;Gabrielle Rudolf;Eric Noé;Eric Noé

  280
  Citations

• Fever, genes, and epilepsy

  Stéphanie Baulac;Isabelle Gourfinkel-An;Rima Nabbout;Gilles Huberfeld

  268
  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

• Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.

  Théo Ribierre;Charlotte Deleuze;Alexandre Bacq;Sara Baldassari

  226
  Citations

• The landscape of epilepsy-related GATOR1 variants

  Sara Baldassari;Fabienne Picard;Nienke E. Verbeek;Marjan van Kempen

  225
  Citations

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

  Julian Schubert;Aleksandra Siekierska;Mélanie Langlois;Patrick May

  222
  Citations

• Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

  E. Marsan;S. Baulac

  206
  Citations

• Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

  Sarah Weckhuysen;Elise Marsan;Virginie Lambrecq;Cécile Marchal

  185
  Citations

• Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss.

  William A. Campbell;Hongwei Yang;Henrik Zetterberg;Stéphanie Baulac

  174
  Citations

• Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

  Christel Depienne;Oriane Trouillard;Isabelle Gourfinkel-An;Cécile Saint-Martin

  171
  Citations

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

  Fabienne Picard;Periklis Makrythanasis;Vincent Navarro;Saeko Ishida

  164
  Citations

• Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

  Michael Steffens;Costin Leu

  161
  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