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There are 20255 results for: content related to: Genetic epileptic encephalopathies: Is all written into the DNA ?

  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

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    Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

    Epilepsia

    Volume 54, Issue 9, September 2013, Pages: 1577–1585, Eija Gaily, Anna-Kaisa Anttonen, Leena Valanne, Elina Liukkonen, Ann-Liz Träskelin, Anne Polvi, Markus Lommi, Mikko Muona, Kai Eriksson and Anna-Elina Lehesjoki

    Article first published online : 28 JUN 2013, DOI: 10.1111/epi.12256

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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

    Article first published online : 11 JAN 2013, DOI: 10.1111/epi.12060

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    Co-occurring malformations of cortical development and SCN1A gene mutations

    Epilepsia

    Volume 55, Issue 7, July 2014, Pages: 1009–1019, Carmen Barba, Elena Parrini, Roland Coras, Anna Galuppi, Dana Craiu, Gerhard Kluger, Antonia Parmeggiani, Tom Pieper, Thomas Schmitt-Mechelke, Pasquale Striano, Flavio Giordano, Ingmar Blumcke and Renzo Guerrini

    Article first published online : 5 JUN 2014, DOI: 10.1111/epi.12658

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    Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome

    Epilepsia

    Volume 54, Issue 5, May 2013, Pages: 918–926, Jan Moehring, Sarah von Spiczak, Friederike Moeller, Ingo Helbig, Stephan Wolff, Olav Jansen, Hiltrud Muhle, Rainer Boor, Ulrich Stephani and Michael Siniatchkin

    Article first published online : 8 FEB 2013, DOI: 10.1111/epi.12119

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    Long-term course of Dravet syndrome: A study from an epilepsy center in Japan

    Epilepsia

    Volume 55, Issue 4, April 2014, Pages: 528–538, Rumiko Takayama, Tateki Fujiwara, Hideo Shigematsu, Katsumi Imai, Yukitoshi Takahashi, Kazuhiro Yamakawa and Yushi Inoue

    Article first published online : 6 FEB 2014, DOI: 10.1111/epi.12532

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    Dravet syndrome—From epileptic encephalopathy to channelopathy

    Epilepsia

    Volume 55, Issue 7, July 2014, Pages: 979–984, Andreas Brunklaus and Sameer M. Zuberi

    Article first published online : 16 MAY 2014, DOI: 10.1111/epi.12652

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    Purinergic control of hippocampal circuit hyperexcitability in Dravet syndrome

    Epilepsia

    Volume 55, Issue 2, February 2014, Pages: 245–255, Feng Gu, Anupam Hazra, Ahmad Aulakh and Jokūbas Žiburkus

    Article first published online : 13 JAN 2014, DOI: 10.1111/epi.12487

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    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

    Article first published online : 25 AUG 2014, DOI: 10.1111/epi.12750

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    Myoclonic epilepsy in infancy: An electroclinical study and long-term follow-up of 38 patients

    Epilepsia

    Volume 54, Issue 9, September 2013, Pages: 1605–1612, Roberto H. Caraballo, Santiago Flesler, María Constanza Pasteris, María Francisca Lopez Avaria, Sebastian Fortini and Carolina Vilte

    Article first published online : 24 JUL 2013, DOI: 10.1111/epi.12321

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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

  12. 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

    Article first published online : 26 FEB 2015, DOI: 10.1111/epi.12925

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    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

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    Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome

    Epilepsia

    Volume 54, Issue 7, July 2013, Pages: 1251–1261, Camille Liautard, Paolo Scalmani, Giovanni Carriero, Marco de Curtis, Silvana Franceschetti and Massimo Mantegazza

    Article first published online : 10 MAY 2013, DOI: 10.1111/epi.12213

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    Successful use of fenfluramine as an add-on treatment for Dravet syndrome

    Epilepsia

    Volume 53, Issue 7, July 2012, Pages: 1131–1139, Berten Ceulemans, Marc Boel, Katrien Leyssens, Carolin Van Rossem, Pieter Neels, Philippe G. Jorens and Lieven Lagae

    Article first published online : 3 MAY 2012, DOI: 10.1111/j.1528-1167.2012.03495.x

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    The genetics of Dravet syndrome

    Epilepsia

    Volume 52, Issue s2, April 2011, Pages: 24–29, Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Arvid Suls, Peter De Jonghe, Federico Zara and Renzo Guerrini

    Article first published online : 4 APR 2011, DOI: 10.1111/j.1528-1167.2011.02997.x

  17. The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

    Epilepsia

    Volume 56, Issue 4, April 2015, Pages: e36–e39, Allan Bayat, Helle Hjalgrim and Rikke S. Møller

    Article first published online : 16 MAR 2015, DOI: 10.1111/epi.12927

  18. Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome

    Epilepsia

    Christian M. Korff, Andreas Brunklaus and Sameer M. Zuberi

    Article first published online : 21 AUG 2015, DOI: 10.1111/epi.13105

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    Transition to adult life in the monogenic epilepsies

    Epilepsia

    Volume 55, Issue s3, August 2014, Pages: 12–15, Ingrid E. Scheffer and Charlotte Dravet

    Article first published online : 10 SEP 2014, DOI: 10.1111/epi.12707

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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