Search Results

There are 7294 results for: content related to: Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures

  1. You have free access to this content
    SCN1A testing for epilepsy: Application in clinical practice

    Epilepsia

    Volume 54, Issue 5, May 2013, Pages: 946–952, Shinichi Hirose, Ingrid E. Scheffer, Carla Marini, Peter De Jonghe, Eva Andermann, Alica M. Goldman, Marcelo Kauffman, Nigel C. K. Tan, Daniel H. Lowenstein, Sanjay M. Sisodiya, Ruth Ottman, Samuel F. Berkovic and The Genetics Commission of the International League Against Epilepsy

    Article first published online : 15 APR 2013, DOI: 10.1111/epi.12168

  2. You have free access to this content
    Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

    The Journal of Physiology

    Volume 588, Issue 11, June 2010, Pages: 1841–1848, Miriam H. Meisler, Janelle E. O’Brien and Lisa M. Sharkey

    Article first published online : 28 MAY 2010, DOI: 10.1113/jphysiol.2010.188482

  3. You have free access to this content
    Sodium channels and the neurobiology of epilepsy

    Epilepsia

    Volume 53, Issue 11, November 2012, Pages: 1849–1859, Megan Oliva, Samuel F. Berkovic and Steven Petrou

    Article first published online : 20 AUG 2012, DOI: 10.1111/j.1528-1167.2012.03631.x

    Corrected by:

    Erratum: Erratum

    Vol. 54, Issue 3, 570, Article first published online: 4 MAR 2013

  4. You have free access to this content
    Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures

    Genes, Brain and Behavior

    Volume 11, Issue 2, March 2012, Pages: 170–176, Y.-W. Shi, M.-J. Yu, Y.-S. Long, B. Qin, N. He, H. Meng, X.-R. Liu, W.-Y. Deng, M.-M. Gao, Y.-H. Yi, B.-M. Li and W.-P. Liao

    Article first published online : 14 DEC 2011, DOI: 10.1111/j.1601-183X.2011.00756.x

  5. You have free access to this content
    Mapping genetic modifiers of survival in a mouse model of Dravet syndrome

    Genes, Brain and Behavior

    Volume 13, Issue 2, February 2014, Pages: 163–172, A. R. Miller, N. A. Hawkins, C. E. McCollom and J. A. Kearney

    Article first published online : 14 NOV 2013, DOI: 10.1111/gbb.12099

  6. You have full text access to this OnlineOpen article
    Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novoSCN1A Mutations in Children with Dravet Syndrome

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 861–872, Xiaojing Xu, Xiaoxu Yang, Qixi Wu, Aijie Liu, Xiaoling Yang, Adam Yongxin Ye, August Yue Huang, Jiarui Li, Meng Wang, Zhe Yu, Sheng Wang, Zhichao Zhang, Xiru Wu, Liping Wei and Yuehua Zhang

    Article first published online : 24 JUL 2015, DOI: 10.1002/humu.22819

  7. You have free access to this content
    Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome

    Epilepsia

    Volume 53, Issue 7, July 2012, Pages: 1140–1145, Dezhi Cao, Hideyuki Ohtani, Ikuo Ogiwara, Sanae Ohtani, Yukitoshi Takahashi, Kazuhiro Yamakawa and Yushi Inoue

    Article first published online : 11 MAY 2012, DOI: 10.1111/j.1528-1167.2012.03497.x

  8. You have free access to this content
    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

  9. You have free access to this content
    Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

    Epilepsia

    Volume 54, Issue 9, September 2013, Pages: e122–e126, John C. Mulley, Bree Hodgson, Jacinta M. McMahon, Xenia Iona, Susannah Bellows, Saul A Mullen, Kevin Farrell, Mark Mackay, Lynette Sadleir, Andrew Bleasel, Deepak Gill, Richard Webster, Elaine C. Wirrell, Michael Harbord, Sanyjay Sisodiya, Eva Andermann, Sara Kivity, Samuel F. Berkovic, Ingrid E. Scheffer and Leanne M. Dibbens

    Article first published online : 29 JUL 2013, DOI: 10.1111/epi.12323

  10. You have free access to this content
    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

  11. You have free access to this content
    Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

    Epilepsia

    Volume 51, Issue 4, April 2010, Pages: 655–670, Ruth Ottman, Shinichi Hirose, Satish Jain, Holger Lerche, Iscia Lopes-Cendes, Jeffrey L. Noebels, José Serratosa, Federico Zara and Ingrid E. Scheffer

    Article first published online : 19 JAN 2010, DOI: 10.1111/j.1528-1167.2009.02429.x

  12. You have free access to this content
    Protective effect of the ketogenic diet in Scn1a mutant mice

    Epilepsia

    Volume 52, Issue 11, November 2011, Pages: 2050–2056, Stacey B. B. Dutton, Nikki T. Sawyer, Franck Kalume, Patricia Jumbo-Lucioni, Karin Borges, William A. Catterall and Andrew Escayg

    Article first published online : 29 JUL 2011, DOI: 10.1111/j.1528-1167.2011.03211.x

  13. You have full text access to this OnlineOpen article
    Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss

    Genes, Brain and Behavior

    Volume 8, Issue 7, October 2009, Pages: 699–713, F. E. Mackenzie, A. Parker, N. J. Parkinson, P. L. Oliver, D. Brooker, P. Underhill, V. A. Lukashkina, A. N. Lukashkin, C. Holmes and S. D. M. Brown

    Article first published online : 22 JUN 2009, DOI: 10.1111/j.1601-183X.2009.00514.x

  14. 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

  15. A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures

    Epileptic Disorders

    Volume 16, Issue 2, June 2014, Pages: 227–231, Naoto Jingami, Riki Matsumoto, Hirotaka Ito, Atsushi Ishii, Yukiko Ihara, Shinichi Hirose, Akio Ikeda and Ryosuke Takahashi

    Article first published online : 18 JUN 2014, DOI: 10.1684/epd.2014.0657

  16. You have free access to this content
    Targeted next generation sequencing as a diagnostic tool in epileptic disorders

    Epilepsia

    Volume 53, Issue 8, August 2012, Pages: 1387–1398, Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki, Susi Strozzi, Barbara Goeggel Simonetti, Sebastian Grunt, Maja Steinlin, Michael Alber, Markus Wolff, Thomas Klopstock, Eva C. Prott, Rüdiger Lorenz, Christiane Spaich, Sabine Rona, Maya Lakshminarasimhan, Judith Kröll, Thomas Dorn, Günter Krämer, Matthis Synofzik, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Detlef Böhm and Saskia Biskup

    Article first published online : 21 MAY 2012, DOI: 10.1111/j.1528-1167.2012.03516.x

  17. You have free access to this content
    Mutations of the SCN1A gene in acute encephalopathy

    Epilepsia

    Volume 53, Issue 3, March 2012, Pages: 558–564, Makiko Saitoh, Mayu Shinohara, Hideki Hoshino, Masaya Kubota, Kaoru Amemiya, Jun-lchi Takanashi, Su-Kyeong Hwang, Shinichi Hirose and Masashi Mizuguchi

    Article first published online : 6 FEB 2012, DOI: 10.1111/j.1528-1167.2011.03402.x

  18. You have free access to this content
    Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

    Epilepsia

    Volume 51, Issue 9, September 2010, Pages: 1865–1869, Sarah E. Heron, Ingrid E. Scheffer, Bronwyn E. Grinton, Helen Eyre, Karen L. Oliver, Sharon Bain, Samuel F. Berkovic and John C. Mulley

    Article first published online : 2 APR 2010, DOI: 10.1111/j.1528-1167.2010.02558.x

  19. Scn1a dysfunction alters behavior but not the effect of stress on seizure response

    Genes, Brain and Behavior

    Volume 15, Issue 3, March 2016, Pages: 335–347, N. T. Sawyer, A. W. Helvig, C. D. Makinson, M. J. Decker, G. N. Neigh and A. Escayg

    Article first published online : 21 JAN 2016, DOI: 10.1111/gbb.12281

  20. You have free access to this content
    Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts

    The Journal of Physiology

    Volume 593, Issue 6, 15 March 2015, Pages: 1389–1407, Xianming Lin, Heather O'Malley, Chunling Chen, David Auerbach, Monique Foster, Akshay Shekhar, Mingliang Zhang, William Coetzee, José Jalife, Glenn I. Fishman, Lori Isom and Mario Delmar

    Article first published online : 17 SEP 2014, DOI: 10.1113/jphysiol.2014.277699