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There are 32538 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 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

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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

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

  3. 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

  4. 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

  5. 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2767–2774, Manjunath Nimmakayalu, Nathan Noble, V. Kim Horton, Marcia Willing, Sara Copeland, Val Sheffield, Peter L. Nagy, Tom Wassink, Shivanand Patil and Oleg A. Shchelochkov

    Article first published online : 28 SEP 2012, DOI: 10.1002/ajmg.a.35362

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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

    Article first published 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

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

  8. 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

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    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

  10. Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 1020–1025, Shinichi Takatsuki, Rina Nakamura, Youichi Haga, Kazumasa Mitsui, Takuji Hashimoto, Keiko Shimojima, Tsutomu Saji and Toshiyuki Yamamoto

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33362

  11. 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

  12. The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

    Human Mutation

    Volume 36, Issue 6, June 2015, Pages: 573–580, Heng Meng, Hai-Qing Xu, Lu Yu, Guo-Wang Lin, Na He, Tao Su, Yi-Wu Shi, Bin Li, Jie Wang, Xiao-Rong Liu, Bin Tang, Yue-Sheng Long, Yong-Hong Yi and Wei-Ping Liao

    Article first published online : 13 APR 2015, DOI: 10.1002/humu.22782

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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

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

  14. 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

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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

    Article first published online : 28 MAY 2010, DOI: 10.1111/j.1528-1167.2010.02640.x

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    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

  17. 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

    Article first published online : 13 AUG 2014, DOI: 10.1002/ana.24230

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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

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

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    Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations

    Epilepsia

    Volume 53, Issue 8, August 2012, Pages: 1421–1428, Jennifer J. Rilstone, Fernando M. Coelho, Berge A. Minassian and Danielle M. Andrade

    Article first published online : 10 JUL 2012, DOI: 10.1111/j.1528-1167.2012.03583.x

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    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