Gaetan Lesca

Overview

Best Publications

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

  Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  570
  Citations

• GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

  Gaetan Lesca;Gabrielle Rudolf;Nadine Bruneau;Natalia Lozovaya

  487
  Citations

• The adult form of Niemann-Pick disease type C.

  Mathieu Sévin;Gaëtan Lesca;Nicole Baumann;Gilles Millat

  466
  Citations

• Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

  Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger

  281
  Citations

• Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

  Eleonore Eymard-Pierre;Gaetan Lesca;Sandra Dollet;Filippo Maria Santorelli

  257
  Citations

• GRIN2A-related disorders : genotype and functional consequence predict phenotype

  Vincent Strehlow;Henrike O Heyne;Henrike O Heyne;Henrike O Heyne;Danique R M Vlaskamp;Katie F M Marwick

  233
  Citations

• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  225
  Citations

• The landscape of epilepsy-related GATOR1 variants

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

  225
  Citations

• Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).

  Vincent Cottin;Sophie Dupuis-Girod;Gaetan Lesca;Jean-François Cordier

  223
  Citations

• Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

  Gaëtan Lesca;Carla Olivieri;Nelly Burnichon;Fabio Pagella

  220
  Citations

• Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

  Cyril Mignot;Celina von Stülpnagel;Caroline Nava;Dorothée Ville

  213
  Citations

• Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.

  Elisabetta Buscarini;Henry Plauchu;Guadalupe Garcia Tsao;Robert I. White

  210
  Citations

• Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.

  Gaetan Lesca;Gabrielle Rudolf;Audrey Labalme;Edouard Hirsch

  203
  Citations

• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

  Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  190
  Citations

• FXTAS New insights and the need for revised diagnostic criteria

  Emmanuelle Apartis;Anne Blancher;Wassilios G. Meissner;Lucie Guyant-Maréchal

  187
  Citations

• Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

  Eleni Panagiotakaki;Elisa De Grandis;Michela Stagnaro;Erin L. Heinzen

  166
  Citations

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

  Fabienne Picard;Periklis Makrythanasis;Vincent Navarro;Saeko Ishida

  164
  Citations

• Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

  Christel Depienne;Oriane Trouillard;Delphine Bouteiller;Isabelle Gourfinkel-An;Isabelle Gourfinkel-An

  157
  Citations

• Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

  Gaëtan Lesca;Henri Plauchu;Florence Coulet;Sylvain Lefebvre

  150
  Citations

• Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  22
  Citations