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There are 10997 results for: content related to: Role of the sodium channel SCN 9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

  1. You have free access to this content
    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

    Version of Record online : 12 MAR 2009, DOI: 10.1111/j.1528-1167.2009.02013.x

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    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

    Version of Record online : 28 MAY 2010, DOI: 10.1113/jphysiol.2010.188482

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    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

    Version of Record online : 15 APR 2013, DOI: 10.1111/epi.12168

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    Sodium channel SCN1A and epilepsy: Mutations and mechanisms

    Epilepsia

    Volume 51, Issue 9, September 2010, Pages: 1650–1658, Andrew Escayg and Alan L. Goldin

    Version of Record online : 28 MAY 2010, DOI: 10.1111/j.1528-1167.2010.02640.x

  5. Molecular Genetics of Dravet Syndrome

    Standard Article

    eLS

    Sarah Weckhuysen, Arvid Suls and Peter Jonghe

    Published Online : 15 MAR 2012, DOI: 10.1002/9780470015902.a0023846

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    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

    Version of Record online : 20 AUG 2012, DOI: 10.1111/j.1528-1167.2012.03631.x

    Corrected by:

    Erratum: Erratum

    Vol. 54, Issue 3, 570, Version of Record online: 4 MAR 2013

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    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

    Version of Record online : 14 DEC 2011, DOI: 10.1111/j.1601-183X.2011.00756.x

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    Molecular genetics of Dravet syndrome

    Developmental Medicine & Child Neurology

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

    Version of Record online : 19 APR 2011, DOI: 10.1111/j.1469-8749.2011.03965.x

  9. 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

    Version of Record online : 21 JAN 2016, DOI: 10.1111/gbb.12281

  10. You have full text access to this OnlineOpen article
    Methylphenidate improves learning impairments and hyperthermia-induced seizures caused by an Scn1a mutation

    Epilepsia

    Volume 55, Issue 10, October 2014, Pages: 1558–1567, Iori Ohmori, Nozomi Kawakami, Sumei Liu, Haijiao Wang, Ikuko Miyazaki, Masato Asanuma, Hiroyuki Michiue, Hideki Matsui, Tomoji Mashimo and Mamoru Ouchida

    Version of Record online : 25 AUG 2014, DOI: 10.1111/epi.12750

  11. You have full text access to this OnlineOpen article
    Tau reduction prevents disease in a mouse model of Dravet syndrome

    Annals of Neurology

    Volume 76, Issue 3, September 2014, Pages: 443–456, Ania L. Gheyara, Ravikumar Ponnusamy, Biljana Djukic, Ryan J. Craft, Kaitlyn Ho, Weikun Guo, Mariel M. Finucane, Pascal E. Sanchez and Lennart Mucke

    Version of Record online : 13 AUG 2014, DOI: 10.1002/ana.24230

  12. 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

    Version of Record online : 24 JUL 2015, DOI: 10.1002/humu.22819

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    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

    Version of Record online : 11 MAY 2012, DOI: 10.1111/j.1528-1167.2012.03497.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

    Version of Record online : 24 JUL 2006, DOI: 10.1002/humu.20350

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    Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+)

    Epilepsia

    Volume 54, Issue 4, April 2013, Pages: 625–634, Ligia A. Papale, Christopher D. Makinson, J. Christopher Ehlen, Sergio Tufik, Michael J. Decker, Ketema N. Paul and Andrew Escayg

    Version of Record online : 11 JAN 2013, DOI: 10.1111/epi.12060

  16. You have full text access to this OnlineOpen article
    Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating

    The Journal of Physiology

    A. Liavas, G. Lignani and S. Schorge

    Version of Record online : 18 JUL 2017, DOI: 10.1113/JP274693

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    SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability

    Epilepsia

    Volume 56, Issue 3, March 2015, Pages: 431–438, Weijing Kong, Yujia Zhang, Yang Gao, Xiaoyan Liu, Kai Gao, Han Xie, Jingmin Wang, Ye Wu, Yuehua Zhang, Xiru Wu and Yuwu Jiang

    Version of Record online : 26 FEB 2015, DOI: 10.1111/epi.12925

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    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

    Version of Record online : 11 JUN 2007, DOI: 10.1111/j.1528-1167.2007.01122.x

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    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

    Version of Record online : 24 NOV 2005, DOI: 10.1113/jphysiol.2005.094326

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    Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

    Epilepsia

    Volume 51, Issue 12, December 2010, Pages: 2474–2477, Renzo Guerrini, Elena Cellini, Davide Mei, Tiziana Metitieri, Cristina Petrelli, Daniela Pucatti, Carla Marini and Nelia Zamponi

    Version of Record online : 18 NOV 2010, DOI: 10.1111/j.1528-1167.2010.02790.x