Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

by Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané
Published 2019-01-01

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

by Oriane Trouillard, Jeanette Koht, Thorsten Gerstner, Siri Moland, Christel Depienne, Isabelle Dusart, Aurélie Méneret, Marta Ruiz, Caroline Dubacq, Emmanuel Roze
Published 2016-11-01

Silencing of the Charcot–Marie–Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells

by Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg, Bernard Brugg, Jocelyn Laporte, Anne Baron-Van Evercooren, Eric LeGuern
Published 2007-05-01

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

by Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron
Published 2014-01-01

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

by Kévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, Véronique Rousseau, Christel Depienne, Agnès Rastetter, Caroline Nava, Tania Attié-Bitach, Ferechté Razavi, Jelena Martinovic, Marie Laure Moutard, Jacqueline Cherfils, Cyril Mignot, Delphine Héron, Jean-Vianney Barnier
Published 2020-03-01

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

by Christel Depienne, Sorana Ciura, Oriane Trouillard, Delphine Bouteiller, Elsa Leitã;o, Caroline Nava, Boris Keren, Yannick Marie, Justine Guegan, Sylvie Forlani, Alexis Brice, Mathieu Anheim, Yves Agid, Paul Krack, Philippe Damier, François Viallet, Jean-Luc Houeto, Franck Durif, Marie Vidailhet, Yulia Worbe, Emmanuel Roze, Edor Kabashi, Andreas Hartmann
Published 2019-11-01

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

by Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern
Published 2009-02-01

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

by Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern
Published 2009-04-01

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in Resembles Dravet Syndrome but Mainly Affects Females.

by Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern
Published 2009-04-01

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

by Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin
Published 2020-05-01

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

by Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Published 2019-10-01

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

by Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Published 2014-09-01

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

by Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Published 2019-10-01

Synaptic processes and immune-related pathways implicated in Tourette syndrome

by Fotis Tsetsos, Dongmei Yu, Jae Hoon Sul, Alden Y. Huang, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten R. Muller-Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, Harald Aschauer, Mara Stamenkovic, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas V. Fernandez, Csaba Barta, Zsanett Tarnok, Peter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Danielle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara J. Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Michael Wagner, James A. Knowles, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Nancy J. Cox, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Peristera Paschou, on behalf of the Tourette Association of America International Consortium for Genetics, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Danielle C. Cath, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, Carol A. Mathews, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Harvey S. Singer, Jan H. Smit, Jae Hoon Sul, Dongmei Yu, the Gilles de la Tourette GWAS Replication Initiative, Harald Aschauer Harald Aschauer, Csaba Barta, Cathy L. Budman, Danielle C. Cath, Christel Depienne, Andreas Hartmann, Johannes Hebebrand, Anastasios Konstantinidis, Carol A. Mathews, Kirsten Müller-Vahl, Peter Nagy, Markus M. Nöthen, Peristera Paschou, Renata Rizzo, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Monika Schlögelhofer, Mara Stamenkovic, Manfred Stuhrmann, Fotis Tsetsos, Zsanett Tarnok, Tomasz Wolanczyk, Yulia Worbe, the Tourette International Collaborative Genetics Study, Lawrence Brown, Keun-Ah Cheon, Barbara J. Coffey, Andrea Dietrich, Thomas V. Fernandez, Blanca Garcia-Delgar, Donald Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Gary A. Heiman, Isobel Heyman, Pieter J. Hoekstra, Chaim Huyser, Young Key Kim, Young-Shin Kim, Robert A. King, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L. Leventhal, Marcos Madruga-Garrido, Pablo Mir, Astrid Morer, Alexander Münchau, Kerstin J. Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jay A. Tischfield, A. Jeremy Willsey, Samuel Zinner, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group, Harald Aschauer, Cathy L. Barr, Csaba Barta, James R. Batterson, Cheston Berlin, Lawrence Brown, Cathy L. Budman, Danielle C. Cath, Barbara J. Coffey, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Christel Depienne, Andrea Dietrich, Yves Dion, Thomas Fernandez, Nelson B. Freimer, Donald Gilbert, Marco A. Grados, Erica Greenberg, Andreas Hartmann, Johannes Hebebrand, Gary Heiman, Matthew E. Hirschtritt, Pieter Hoekstra, Alden Y. Huang, Cornelia Illmann, Joseph Jankovic, Robert A. King, Samuel Kuperman, Paul C. Lee, Gholson J. Lyon, Irene A. Malaty, Carol A. Mathews, William M. McMahon, Kirsten Müller-Vahl, Peter Nagy, Benjamin M. Neale, Markus M. Nöthen, Michael S. Okun, Lisa Osiecki, Peristera Paschou, Renata Rizzo, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Monika Schlögelhofer, Harvey S. Singer, Mara Stamenkovic, Manfred Stuhrmann, Jae Hoon Sul, Zsanett Tarnok, Jay Tischfield, Fotis Tsetsos, A. Jeremy Willsey, Douglas Woods, Yulia Worbe, Dongmei Yu, Samuel Zinner
Published 2021-01-01