Search Results - Sinéad B. Heavin

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  1. 1
    Early and effective treatment of <i><scp>KCNQ</scp>2</i> encephalopathy

    Early and effective treatment of <i><scp>KCNQ</scp>2</i> encephalopathy by Tiziana Pisano, Adam L. Numis, Sinéad B. Heavin, Sarah Weckhuysen, Marco Angriman, Arvid Suls, Barbara Podestà, Ronald L. Thibert, Kevin A. Shapiro, Renzo Guerrini, Ingrid E. Scheffer, Carla Marini, Maria Roberta Cilio

    Published 2015
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  2. 2
    A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

    A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability by Katherine A. Benson, Máire White, Nicholas M. Allen, Susan Byrne, Robert Carton, Elizabeth Comerford, Daniel J. Costello, Colin P. Doherty, Brendan Dunleavey, Hany El‐Naggar, Nisha Gangadharan, Sinéad B. Heavin, Hugh Kearney, Nicholas Lench, John Lynch, Mark McCormack, Mary O’ Regan, Karl Podesta, Kevin Power, Anthony Rogers, Charles A. Steward, Brian Sweeney, David Webb, M Fitzsimons, Marie T. Greally, Norman Delanty, Gianpiero L. Cavalleri

    Published 2020
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  3. 3
    Extending the <i>KCNQ2</i> encephalopathy spectrum

    Extending the <i>KCNQ2</i> encephalopathy spectrum by Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S. Møller, Sabine Grønborg, An‐Sofie Schoonjans, Berten Ceulemans, Sinéad B. Heavin, Christin Eltze, Rita Horváth, Gianluca Casara, Tiziana Pisano, Lucio Giordano, Kevin Rostásy, Edda Haberlandt, Beate Albrecht, Andrea Bevot, Ira Benkel, Steffan Syrbe, Beth Rosen Sheidley, Renzo Guerrini, Annapurna Poduri, Johannes R. Lemke, Simone Mandelstam, Ingrid E. Scheffer, Marco Angriman, Pasquale Striano, Carla Marini, Arvid Suls, Peter De Jonghe

    Published 2013
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  4. 4
    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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  5. 5
    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 by Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoff Wallace, Thorsten Stanley, Ann Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard Webster, Amos D. Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman‐Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    Published 2013
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  6. 6
    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures

    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures by Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, John S. Archer, Sinéad B. Heavin, Simone Mandelstam, Dana Craiu, Samuel F. Berkovic, Deepak Gill, Heather C. Mefford, Ingrid E. Scheffer, Aarno Paalotie, Anna‐Elina Lehesjoki, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric LeGuern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Manuela Pendziwiat, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Arvid Suls, Tania Djémié, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Published 2015
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  7. 7
    De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    De novo mutations in ATP1A3 cause alternating hemiplegia of childhood by Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Boukje de Vries, Francesco Danilo Tiziano, Bertrand Fontaine, Sophie Nicole, Sinéad B. Heavin, Eleni Panagiotakaki, Sophie Nicole, Fiorella Gurrieri, Giovanni Neri, Boukje de Vries, Stephany C Koelewijn, Jessica T. Kamphorst, Marije A. Geilenkirchen, Nadine Pelzer, Laura Laan, Joost Haan, Michel D. Ferrari, Arn van den Maagdenberg, Claudio Zucca, Maria Teresa Bassi, F Franchini, Rosaria Vavassori, Melania Giannotta, Giuseppe Gobbi, Tiziana Granata, Nardo Nardocci, Elisa De Grandis, E. Veneselli, Michela Stagnaro, Fiorella Gurrieri, Giovanni Neri, Federico Vigevano, Eleni Panagiotakaki, Claudia Oechsler, Alexis Arzimanoglou, Sophie Nicole, Melania Giannotta, Giuseppe Gobbi, Miriam Ninan, Brian Neville, Friedrich Ebinger, Carmen Fons, Jaume Campistol, David Kemlink, Soňa Nevšímalová, Laura Laan, Cacha Peeters‐Scholte, Arn van den Maagdenberg, Paul Casaer, Giorgio Casari, Guenter Sange, Georg Spiel, Filippo Martinelli Boneschi, Claudio Zucca, Maria Teresa Bassi, Tsveta Schyns, Francis P. Crawley, Dominique Poncelin, Rosaria Vavassori, Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro, Matthew Sweney, Tara Newcomb, Louis Viollet, Chad D. Huff, Lynn B. Jorde, Sandra P. Reyna, Kelley J. Murphy, Kevin V. Shianna, Curtis Gumbs, Latasha Little, Kenneth Silver, Louis J. Ptáček, Joost Haan, Michel D. Ferrari, Ann Bye, Geoffrey Herkes, Charlotte M Whitelaw, David Webb, Bryan J. Lynch, Peter Uldall, Mary D. King, Ingrid E. Scheffer, Giovanni Neri, Alexis Arzimanoglou, Arn M. J. M. van den Maagdenberg, Sanjay M. Sisodiya, Mohamad A. Mikati, David B. Goldstein

    Published 2012
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