Stéphanie Baulac

Stéphanie Baulac publication distribution in Neuroscience in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Neuroscience in 2026. The highlighted bar marks where Stéphanie Baulac sits on this spectrum.

Stéphanie Baulac D-index placement in Neuroscience in 2026

The chart shows the D-index (discipline H-index) distribution of Neuroscience scientists ranked by Research.com in 2026. The highlighted bar marks where Stéphanie Baulac sits on this spectrum.

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