Search Results - Caroline Lacoste

  • Showing 1 - 10 results of 10
Refine Results
  1. 1
    A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity

    A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity by Jérôme Devaux, Affef Abidi, Agathe Roubertie, Florence Molinari, Hélène Becq, Caroline Lacoste, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations by Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

    SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome by Alexandre Fabre, Bernard Charroux, Christine Martinez‐Vinson, Bertrand Roquelaure, Ödül Eğritaş, Ersin Sayar, Hilary A. Smith, V. Colomb, Nicolás André, Jean‐Pierre Hugot, Olivier Goulet, Caroline Lacoste, Jacques Sarles, Julien Royet, Nicolas Lévy, Catherine Badens

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    A mutation in the Gardos channel is associated with hereditary xerocytosis

    A mutation in the Gardos channel is associated with hereditary xerocytosis by Raphael Rapetti‐Mauss, Caroline Lacoste, Véronique Picard, Corinne Guitton, Elise Lombard, Marie Loosveld, Vanessa Nivaggioni, Nathalie Dasilva, David Salgado, Jean-Pierre Desvignes, Christophe Béroud, Patrick Viout, Monique Bernard, Olivier Soriani, H Vinti, V. Lacroze, Madeleine Fénéant‐Thibault, Isabelle Thuret, Hélène Guizouarn, Catherine Badens

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels by Affef Abidi, Jérôme Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine de la Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaëtan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases by Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 by Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Héron, Maryline Carneiro, Anna Kaminśka, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Héron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, D. Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, B. Chabrol, Catherine Badens, Gaëtan Lesca, Laurent Villard

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation

    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</sc... by Pierre‐Yves Maillard, Sarah Baer, Élise Schaefer, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise F. Porter, Caroline Perriard, Marie‐Thérèse Abi Wardé, Marie‐Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothée Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis‐Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gérard, Julietta de Bellescize, Laurent Villard, Anne de Saint Martin, Mathieu Milh

    Published 2022
    Get full text
    Revisão
    Save to List
    Saved in:
  9. 9
    Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

    Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility by Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan, Aurélie Bourchany, Cécile de Leusse, Evelyne Marinier, Arnaud Blanchard, Patrice Bourgeois, Céline Brochier‐Armanet, Ange‐Line Bruel, Arnauld Delarue, Yannis Duffourd, Emmanuelle Ecochard‐Dugelay, G. Héry, Frédéric Huet, Philippe Gauchez, Emmanuel Gonzalès, Catherine Guettier-Bouttier, Mina Komuta, Caroline Lacoste, R. Maudinas, K. Mazodier, Y Rimet, Jean‐Baptiste Rivière, Bertrand Roquelaure, Sabine Sigaudy, Xavier Stéphenne, Christel Thauvin-Robinet, Julien Thévenon, Jacques Sarles, Nicolas Lévy, Catherine Badens, Olivier Goulet, Jean‐Pierre Hugot, Nicholas Katsanis, Laurence Bonhomme‐Faivre, Alexandre Fabre

    Published 2018
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients by Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: