Search Results - Giulia Barcia

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  1. 1
    Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

    Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy by Rima Nabbout, Nicole Chémaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Célia Dubouch, Dorothée Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiron

    Published 2013
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  2. 2
    Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

    Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype by Lisa Ouss, Dorothée Leunen, Jacques Laschet, Nicole Chémaly, Giulia Barcia, Emma Losito, Aveline Aouidad, Zoe Barrault, Isabelle Desguerre, Delphine Breuillard, Rima Nabbout

    Published 2018
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  3. 3
    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels by Grace Kim, Jack Kronengold, Giulia Barcia, Imran H. Quraishi, Hilary C. Martin, Edward Blair, Jenny C. Taylor, Olivier Dulac, Laurence Colleaux, Rima Nabbout, Leonard K. Kaczmarek

    Published 2014
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  4. 4
    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population by Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bôle‐Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

    Published 2016
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  5. 5
    Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

    Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder by Arnold Münnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Émeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean‐Christophe Thalabard, Nathalie Boddaert, Moïse Assouline

    Published 2019
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  6. 6
    Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

    Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency by Laura Sánchez‐Caballero, Benedetta Ruzzenente, L Bianchi, Zahra Assouline, Giulia Barcia, Metodi D. Metodiev, Marlène Rio, Benoît Funalot, Mariël A.M. van den Brand, Sergio Guerrero‐Castillo, J. Molenaar, David A. Koolen, Ulrich Brandt, Richard J. Rodenburg, Leo Nijtmans, Agnès Rötig

    Published 2016
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  7. 7
    De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

    De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy by Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Valeswara‐Rao Gazula, Maile R. Brown, Maéva Langouët, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick Nitschké, Anna Kaminśka, Nathalie Boddaert, Jean‐Laurent Casanova, Isabelle Desguerre, Arnold Münnich, Olivier Dulac, Leonard K. Kaczmarek, Laurence Colleaux, Rima Nabbout

    Published 2012
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  8. 8
    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness by Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José‐Mario Capo‐Chichi, Nathalie Boddaert, Jean‐Claude Décarie, Bruno Maranda, Rima Nabbout, Michel Sylvain, Anne Lortie, Philippe P. Roux, Elsa Rossignol, Xavier Gérard, Giulia Barcia, Patrick Berquin, Arnold Münnich, Guy A. Rouleau, Josseline Kaplan, Jean‐Michel Rozet, Jacques L. Michaud

    Published 2014
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  9. 9
    Epilepsy with migrating focal seizures

    Epilepsy with migrating focal seizures by Giulia Barcia, Nicole Chémaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin‐Limballe, Viorica Ciorna, Alfons Macaya, Laëtitia Lambert, Fanny Dubois, Diane Doummar, Thierry Billette de Villemeur, Nathalie Villeneuve, Marie-Anne Barthez, Caroline Nava, Nathalie Boddaert, Anna Kaminśka, Nadia Bahi‐Buisson, Mathieu Milh, Stéphane Auvin, Jean‐Paul Bonnefont, Rima Nabbout

    Published 2019
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  10. 10
    NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

    NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy by Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković, René G. Feichtinger, Eliška Koňaříková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gušić, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka‐Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B. Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A. Mayr

    Published 2018
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  11. 11
    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 by 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

    Published 2019
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  12. 12
    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures by Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J. Barry, Ganeshwaran H. Mochida, R. Sean Hill, Jill M. Weimer, Quinn Stein, Annapurna Poduri, Jennifer N. Partlow, Dorothée Ville, Olivier Dulac, Timothy W. Yu, Anh-Thu N. Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Münnich, Laurence Colleaux, Leonard I. Zon, Dieter Söll, Christopher A. Walsh, Rima Nabbout

    Published 2014
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  13. 13
    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene by Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Giulia Barcia, Ali Ahmad, Daniel Medina-Cano, Sylvain Hanein, Nami Altin, Laurence Hubert, Christine Bôle‐Feysot, Cécile Fourage, Patrick Nitschké, Julien Thévenon, Marlène Rio, Pierre Blanc, Céline Vidal, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Stanislas Lyonnet, Nathalie Boddaert, Emily Fassi, Marwan Shinawi, Holly H. Zimmerman, Jeanne Amiel, Laurence Faivre, Laurence Colleaux, Philippe Lory, Vincent Cantagrel

    Published 2018
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  14. 14
    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia by Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha S. Zaki, Meral Topçu, Fatma Müjgan Sönmez, Damir Musaev, Valentina Stanley, Christine Bôle‐Feysot, Patrick Nitschké, Arnold Münnich, Nadia Bahi‐Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Bürglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

    Published 2020
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  15. 15
    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis by H. Christian Martin, Grace Kim, A. T. Pagnamenta, Yoshiko Murakami, Gemma L. Carvill, Esther Meyer, Richard R. Copley, Andy Rimmer, Giulia Barcia, Matthew R. Fleming, Jack Kronengold, Milton R. Brown, K Hudspith, John Broxholme, Alexander Kanapin, Jean‐Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, D. R. Bentley, Gil McVean, Sinéad B. Heavin, Zenobia Zaiwalla, Tony McShane, Heather C. Mefford, D. Shears, Helen Stewart, Manju A. Kurian, Ingrid E. Scheffer, Edward Blair, Peter Donnelly, Leonard K. Kaczmarek, Jenny C. Taylor

    Published 2014
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  16. 16
    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
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  17. 17
    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 by 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

    Published 2019
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  18. 18
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis by Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

    Published 2022
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  19. 19
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Published 2022
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  20. 20
    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease by Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski

    Published 2023
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