Eric LeGuern

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2004 - Member of the European Academy of Sciences

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

• Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

  Alessandra Bolino;Maria Muglia;Francesca Luisa Conforti;Eric LeGuern

  559
  Citations

• Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

  Christel Depienne;Christel Depienne;Delphine Bouteiller;Boris Keren;Emmanuel Cheuret

  440
  Citations

• The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

  Ana Cuesta;Laia Pedrola;Teresa Sevilla;Javier García-Planells

  430
  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

• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  Giovanni Stevanin;Filippo M. Santorelli;Hamid Azzedine;Hamid Azzedine;Paula Coutinho

  401
  Citations

• Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

  H. Azzedine;A. Bolino;T. Taïeb;N. Birouk

  400
  Citations

• SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

  Stéphanie Millecamps;François Salachas;Cécile Cazeneuve;Paul H. Gordon

  344
  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

• 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

• INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

  Olivia Boyer;Fabien Nevo;Emmanuelle Plaisier;Benoit Funalot

  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

• Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

  Elisa Teyssou;Takahiro Takeda;Vincent Lebon;Séverine Boillée

  259
  Citations

• A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease

  Angèle Guilbot;Anna Williams;Nicole Ravisé;Christophe Verny

  252
  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