Search Results

There are 250585 results for: content related to: Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

  1. You have full text access to this OnlineOpen article
    Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures

    The Journal of Physiology

    Volume 569, Issue 2, December 2005, Pages: 433–445, Thomas H. Rhodes, Carlos G. Vanoye, Iori Ohmori, Ikuo Ogiwara, Kazuhiro Yamakawa and Alfred L. George Jr

    Article first published online : 24 NOV 2005, DOI: 10.1113/jphysiol.2005.094326

  2. SCN1A mutations and epilepsy

    Human Mutation

    Volume 25, Issue 6, June 2005, Pages: 535–542, John C. Mulley, Ingrid E. Scheffer, Steven Petrou, Leanne M. Dibbens, Samuel F. Berkovic and Louise A. Harkin

    Article first published online : 6 MAY 2005, DOI: 10.1002/humu.20178

  3. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

    Human Mutation

    Volume 21, Issue 6, June 2003, Pages: 615–621, Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del-Favero, Sirpa Ala-Mello, Lina Basel-Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Christine Van Broeckhoven and Peter De Jonghe

    Article first published online : 22 APR 2003, DOI: 10.1002/humu.10217

  4. Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy

    Pediatrics International

    Volume 52, Issue 2, April 2010, Pages: 234–239, Elisabeth Siti Herini, Gunadi, Marjan J.A. Van Kempen, Surini Yusoff, Sutaryo, Sunartini, Suryono Yudha Patria, Masafumi Matsuo, Dick Lindhout and Hisahide Nishio

    Article first published online : 26 JUN 2009, DOI: 10.1111/j.1442-200X.2009.02916.x

  5. You have full text access to this OnlineOpen article
    Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities

    Epilepsia

    Volume 48, Issue 9, September 2007, Pages: 1678–1685, Carla Marini, Davide Mei, Teresa Temudo, Anna Rita Ferrari, Daniela Buti, Charlotte Dravet, Ana I. Dias, Ana Moreira, Eulalia Calado, Stefano Seri, Brian Neville, Juan Narbona, Evan Reid, Roberto Michelucci, Federico Sicca, Helen J. Cross and Renzo Guerrini

    Article first published online : 11 JUN 2007, DOI: 10.1111/j.1528-1167.2007.01122.x

  6. You have free access to this content
    The SCN1A variant database: a novel research and diagnostic tool

    Human Mutation

    Volume 30, Issue 10, October 2009, Pages: E904–E920, Lieve RF Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova and Peter De Jonghe

    Article first published online : 7 JUL 2009, DOI: 10.1002/humu.21083

  7. Genes and loci involved in febrile seizures and related epilepsy syndromes

    Human Mutation

    Volume 27, Issue 5, May 2006, Pages: 391–401, Dominique Audenaert, Christine Van Broeckhoven and Peter De Jonghe

    Article first published online : 20 MAR 2006, DOI: 10.1002/humu.20279

  8. You have free access to this content
    NaV1.1 channels and epilepsy

    The Journal of Physiology

    Volume 588, Issue 11, June 2010, Pages: 1849–1859, William A. Catterall, Franck Kalume and John C. Oakley

    Article first published online : 28 MAY 2010, DOI: 10.1113/jphysiol.2010.187484

  9. You have free access to this content
    Monday July 3, 2006 13:30–15:00 Poster Session 1 Genetics

    Epilepsia

    Volume 47, Issue s3, December 2006, Pages: 85–92,

    Article first published online : 11 JAN 2007, DOI: 10.1111/j.1528-1167.2006.00715_25.x

  10. You have full text access to this OnlineOpen article
    SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    Epilepsia

    Volume 50, Issue 7, July 2009, Pages: 1670–1678, Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Davide Mei, Kathy Cox, Leanne M. Dibbens, Jacinta M. McMahon, Xenia Iona, Rochio Sanchez Carpintero, Maurizio Elia, Maria Roberta Cilio, Nicola Specchio, Lucio Giordano, Pasquale Striano, Elena Gennaro, J. Helen Cross, Sara Kivity, Miriam Y. Neufeld, Zaid Afawi, Eva Andermann, Daniel Keene, Olivier Dulac, Federico Zara, Samuel F. Berkovic, Renzo Guerrini and John C. Mulley

    Article first published online : 12 MAR 2009, DOI: 10.1111/j.1528-1167.2009.02013.x

  11. You have free access to this content
    Monday July 3, 2006 12:00–13:30 Ballroom 1 Platform Session Genetics

    Epilepsia

    Volume 47, Issue s3, December 2006, Pages: 11–12,

    Article first published online : 11 JAN 2007, DOI: 10.1111/j.1528-1167.2006.00715_7.x

  12. Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

    European Journal of Neuroscience

    Volume 34, Issue 8, October 2011, Pages: 1268–1275, Linda Volkers, Kristopher M. Kahlig, Nienke E. Verbeek, Joost H. G. Das, Marjan J. A. van Kempen, Hans Stroink, Paul Augustijn, Onno van Nieuwenhuizen, Dick Lindhout, Alfred L. George Jr, Bobby P. C. Koeleman and Martin B. Rook

    Article first published online : 22 AUG 2011, DOI: 10.1111/j.1460-9568.2011.07826.x

  13. You have free access to this content
    Poster Session I 1:00 p.m.-6:00 p.m.

    Epilepsia

    Volume 48, Issue s6, October 2007, Pages: 1–118,

    Article first published online : 5 OCT 2007, DOI: 10.1111/j.1528-1167.2007.01252_1.x

  14. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients

    Human Mutation

    Volume 27, Issue 9, September 2006, Pages: 914–920, Arvid Suls, Kristl G. Claeys, Dirk Goossens, Boris Harding, Rob Van Luijk, Stefaan Scheers, Liesbet Deprez, Dominique Audenaert, Tine Van Dyck, Sabine Beeckmans, Iris Smouts, Berten Ceulemans, Lieven Lagae, Gunnar Buyse, Nina Barisic, Jean-Paul Misson, Jan Wauters, Jurgen Del-Favero, Peter De Jonghe and Lieve R.F. Claes

    Article first published online : 24 JUL 2006, DOI: 10.1002/humu.20350

  15. You have full text access to this OnlineOpen article
    Clinical spectrum of SCN1A mutations

    Epilepsia

    Volume 50, Issue s5, May 2009, Pages: 20–23, Antonio Gambardella and Carla Marini

    Article first published online : 4 MAY 2009, DOI: 10.1111/j.1528-1167.2009.02115.x

  16. You have full text access to this OnlineOpen article
    Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

    Epilepsia

    Volume 48, Issue 6, June 2007, Pages: 1092–1096, Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, Francesca Madia, Elena Gennaro, Roberta Paravidino, Francesca Beccaria, Giuseppe Capovilla, Bernardo Dalla Bernardina, Francesca Darra, Maurizio Elia, Lucio Giordano, Giuseppe Gobbi, Tiziana Granata, Francesca Ragona, Renzo Guerrini, Carla Marini, Davide Mei, Francesca Longaretti, Antonino Romeo, Laura Siri, Nicola Specchio, Federico Vigevano, Salvatore Striano, Fabio Tortora, Andrea Rossi, Carlo Minetti, Charlotte Dravet, Roberto Gaggero and Federico Zara

    Article first published online : 22 MAR 2007, DOI: 10.1111/j.1528-1167.2007.01020.x

  17. You have full text access to this OnlineOpen article
    Encephalopathy and SCN1A mutations

    Epilepsia

    Volume 52, Issue 4, April 2011, Pages: e26–e30, Shan Tang, Jean Pierre Lin, Elaine Hughes, Ata Siddiqui, Ming Lim and Karine Lascelles

    Article first published online : 22 MAR 2011, DOI: 10.1111/j.1528-1167.2011.03019.x

  18. You have full text access to this OnlineOpen article
    Mutations of Neuronal Voltage-gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

    Epilepsia

    Volume 45, Issue 2, February 2004, Pages: 140–148, Goryu Fukuma, Hirokazu Oguni, Yukiyoshi Shirasaka, Kazuyoshi Watanabe, Tasuku Miyajima, Sawa Yasumoto, Masaharu Ohfu, Takahito Inoue, Aruchalean Watanachai, Ryutaro Kira, Muneaki Matsuo, Hideki Muranaka, Fumiko Sofue, Bo Zhang, Sunao Kaneko, Akihisa Mitsudome and Shinichi Hirose

    Article first published online : 26 JAN 2004, DOI: 10.1111/j.0013-9580.2004.15103.x

  19. You have full text access to this OnlineOpen article
    Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

    Epilepsia

    Volume 47, Issue 10, October 2006, Pages: 1629–1635, Maria Margherita Mancardi, Pasquale Striano, Elena Gennaro, Francesca Madia, Roberta Paravidino, Sara Scapolan, Bernardo Dalla Bernardina, Enrico Bertini, Amedeo Bianchi, Giuseppe Capovilla, Francesca Darra, Maurizio Elia, Elena Freri, Giuseppe Gobbi, Tiziana Granata, Renzo Guerrini, Chiara Pantaleoni, Antonia Parmeggiani, Antonino Romeo, Margherita Santucci, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano, Angela Pistorio, Roberto Gaggero and Federico Zara

    Article first published online : 18 OCT 2006, DOI: 10.1111/j.1528-1167.2006.00641.x

  20. You have full text access to this OnlineOpen article
    Molecular genetics of Dravet syndrome

    Developmental Medicine & Child Neurology

    Volume 53, Issue s2, April 2011, Pages: 7–10, PETER DE JONGHE

    Article first published online : 19 APR 2011, DOI: 10.1111/j.1469-8749.2011.03965.x