Výsledky vyhledávání - Anne de Saint Martin

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  1. 1
    Job Quality, Health and Productivity

    Job Quality, Health and Productivity Autor Anne de Saint Martin, Hande Inanc, Christopher Prinz

    Vydáno 2018
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  2. 2
    Long‐term outcome after cognitive and behavioral regression in nonlesional epilepsy with continuous spike‐waves during slow‐wave sleep

    Long‐term outcome after cognitive and behavioral regression in nonlesional epilepsy with continuous spike‐waves during slow‐wave sleep Autor Caroline Seegmüller, Thierry Deonna, Claire Dubois, Maria‐Paula Valenti‐Hirsch, Édouard Hirsch, Marie‐Noëlle Metz‐Lutz, Anne de Saint Martin, Eliane Roulet‐Perez

    Vydáno 2012
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  3. 3
    Treatment of new onset refractory status epilepticus/febrile infection‐related epilepsy syndrome with tocilizumab in a child and a young adult

    Treatment of new onset refractory status epilepticus/febrile infection‐related epilepsy syndrome with tocilizumab in a child and a young adult Autor Marie‐Laure Girardin, Thomas Flamand, Ombeline Roignot, Marie‐Thérèse Abi Wardé, Véronique Mutschler, Paul Voulleminot, Max Guillot, Vera Dinkelacker, Anne de Saint Martin

    Vydáno 2023
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  4. 4
    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism Autor Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, Édouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motté, Anne de Saint Martin, Maria‐Paola Valenti, Clotilde Boulay, Julitta de Bellescize, Pascale Kéo‐Kosal, Nadia Boutry‐Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski

    Vydáno 2012
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  5. 5
    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i>

    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i> Autor Sarra Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis Arzimanoglou, Jacques Motté, Anne de Saint Martin, Nadia Boutry‐Kryza, Robin Cloarec, Afaf Benitto, Agnès Ameil, Patrick Edery, Philippe Ryvlin, Julitta de Bellescize, Pierre Szepetowski, Damien Sanlaville

    Vydáno 2013
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  6. 6
    KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

    KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP Autor Mathieu Kuchenbuch, Giulia Barcia, Nicole Chémaly, Emilie Carme, Agathe Roubertie, Marc Gibaud, Patrick Van Bogaert, Anne de Saint Martin, Édouard Hirsch, Fanny Dubois, Catherine Sarret, Sylvie Nguyen The Tich, Cécile Laroche, Vincent des Portes, Thierry Billette de Villemeur, Marie-Anne Barthez, Stéphane Auvin, Nadia Bahi‐Buisson, Isabelle Desguerre, Anna Kaminśka, Pascal Benquet, Rima Nabbout

    Vydáno 2019
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  7. 7
    Idiopathic focal epilepsies: the “lost tribe”

    Idiopathic focal epilepsies: the “lost tribe” Autor Deb K. Pal, Colin D. Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Caraballo, Anne de Saint Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi, Ingo Helbig, Andreas A. Ioannides, Katsuhiro Kobayashi, Dennis Lal, Gaëtan Lesca, Hiltrud Muhle, Bernd A. Neubauer, Tiziana Pisano, Gabrielle Rudolf, Caroline Seegmüller, Takashi Shibata, Anna Smith, Pasquale Striano, Lisa J. Strug, Pierre Szepetowski, Thalia Valeta, Harumi Yoshinaga, Michalis Koutroumanidis

    Vydáno 2016
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  8. 8
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients Autor Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    Vydáno 2021
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  9. 9
    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 Autor 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

    Vydáno 2015
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  10. 10
    Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

    Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development Autor Ekaterina Ivanova, Frédéric Tran Mau‐Them, Saima Riazuddin, Kimia Kahrizi, Vincent Laugel, Élise Schaefer, Anne de Saint Martin, Karen Runge, Zafar Iqbal, Marie-Aude Spitz, Laura Mary, Nathalie Drouot, Bénédicte Gérard, Jean‐François Deleuze, Arjan P.M. de Brouwer, Attia Razzaq, Hélène Dollfus, Muhammad Zaman Khan Assir, Patrick Nitchké, Maria-Victoria Hinckelmann, Hilger H. Ropers, Sheikh Riazuddin, Hossein Najmabadi, Hans van Bokhoven, Jamel Chelly

    Vydáno 2017
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  11. 11
    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Autor Lina Liang, Xia Li, Sébastien Moutton, Samantha A. Schrier Vergano, Benjamin Cogné, Anne de Saint Martin, Anna Hurst, Yushuang Hu, Olaf A. Bodamer, Julien Thévenon, Christina Hung, Bertrand Isidor, Bénédicte Gérard, A. Rega, Sophie Nambot, Daphné Lehalle, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Stéphane Bézieau, Leon Dure, Daniel Helbling, David Bick, Chengqi Xu, Qiuyun Chen, Grazia M.S. Mancini, Antonio Vitobello, Qing K. Wang

    Vydáno 2019
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  12. 12
    Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

    Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Autor Julien Thévenon, Mathieu Milh, François Feillet, Judith St‐Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency‐Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaëtan Lesca, Salima El Chehadeh, Christel Thauvin‐Robinet, Alice Masurel‐Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean‐Baptiste Rivière

    Vydáno 2014
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  13. 13
    SRPX2 mutations in disorders of language cortex and cognition

    SRPX2 mutations in disorders of language cortex and cognition Autor Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E. Scheffer, Annick Massacrier, Mp Valenti, N. Roeckel-Trevisol, Sara Jamali, Christophe Béclin, Caroline Seegmüller, Mn Metz-Lutz, Arnaud Lemainque, Marc Delépine, Christophe Caloustian, Anne de Saint Martin, Nadine Bruneau, D. Depétris, Marie‐Geneviève Mattéi, Elisabeth Flori, Andrée Robaglia‐Schlupp, Nicolas Lévy, Ba Neubauer, Rivka Ravid, Christian Marescaux, Samuel F. Berkovic, Édouard Hirsch, Mark Lathrop, P. Cau, Pierre Szepetowski

    Vydáno 2006
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  14. 14
    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... Autor 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

    Vydáno 2022
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  15. 15
    Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

    Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial Autor Marleen M L van Arnhem, Bart van den Munckhof, Alexis Arzimanoglou, Emilio Perucca, Liisa Metsähonkala, Guido Rubboli, Marianne Søndergaard Khinchi, Anne de Saint Martin, Kerstin Alexandra Klotz, Julia Jacobs, J. Helen Cross, Irene Morales, Wim Otte, Heleen C. van Teeseling, Frans S.S. Leijten, Kees P. J. Braun, Floor E. Jansen, Anna Jansen, Lieven Lagae, Thomas Bast, Sarah von Spiczak, Gerhard Kluger, Patrick Van Bogaert, Eija Gaily, Sarah Baer, Stéphane Auvin, Richard Chin, Sameer M. Zuberi, Petia Dimova, C Dana Craiu, Pierangelo Veggiotti, Georgia Ramantani

    Vydáno 2023
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  16. 16
    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy

    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy Autor Iris Lange, Katherine L. Helbig, Sarah Weckhuysen, Rikke S. Møller, Milen Velinov, Natalia Dolzhanskaya, Eric D. Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T. Myers, Wim Van Paesschen, Pasquale Striano, Koen L.I. van Gassen, Marjan van Kempen, Carolien G. F. de Kovel, Juliette Piard, Berge A. Minassian, Marjan M. Nezarati, André Luiz Santos Pessoa, Aurélia Jacquette, Bridget H. Maher, Simona Balestrini, Sanjay M. Sisodiya, Marie Thérèse Abi Warde, Anne de Saint Martin, Jamel Chelly, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H. Brilstra, Bobby P. C. Koeleman

    Vydáno 2016
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  17. 17
    Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy Autor Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne de Saint Martin, Marie‐Thérèse Abi Wardé, Monique G.M. de Sain-van der Velde, Judith Jans, Jeanne Amiel, Žiga Avsec, Christian Mertes, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis‐Flucklinger

    Vydáno 2016
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  18. 18
    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature Autor Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy L. Schneider, Cyril Mignot, Gaëtan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard, Hervé Isnard, Alice Poisson, S. Dupont, Patrick Berquin, Pierre Meyer, David Geneviève, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sékhara, Anne-Sophie Lèbre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout

    Vydáno 2019
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  19. 19
    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations Autor Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

    Vydáno 2018
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  20. 20
    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Autor Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

    Vydáno 2017
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