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There are 422185 results for: content related to: KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

  1. You have free access to this content
    Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization

    The Journal of Physiology

    Volume 586, Issue 14, July 2008, Pages: 3405–3423, Nanda A. Singh, James F. Otto, E. Jill Dahle, Chris Pappas, Jonathan D. Leslie, Alex Vilaythong, Jeffrey L. Noebels, H. Steve White, Karen S. Wilcox and Mark F. Leppert

    Article first published online : 14 JUL 2008, DOI: 10.1113/jphysiol.2008.154971

  2. You have free access to this content
    Second coiled-coil domain of KCNQ channel controls current expression and subfamily specific heteromultimerization by salt bridge networks

    The Journal of Physiology

    Volume 586, Issue 12, June 2008, Pages: 2827–2840, Koichi Nakajo and Yoshihiro Kubo

    Article first published online : 28 JUN 2008, DOI: 10.1113/jphysiol.2007.148601

  3. Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

    Epilepsia

    Bronwyn E. Grinton, Sarah E. Heron, James T. Pelekanos, Sameer M. Zuberi, Sara Kivity, Zaid Afawi, Tristiana C. Williams, Dan M. Casalaz, Simone Yendle, Ilan Linder, Dorit Lev, Tally Lerman-Sagie, Stephen Malone, Haim Bassan, Hadassa Goldberg-Stern, Thorsten Stanley, Michael Hayman, Sophie Calvert, Amos D. Korczyn, Michael Shevell, Ingrid E. Scheffer, John C. Mulley and Samuel F. Berkovic

    Article first published online : 15 MAY 2015, DOI: 10.1111/epi.13020

  4. You have free access to this content
    The new KCNQ2 activator 4-Chlor-N-(6-chlor-pyridin-3-yl)-benzamid displays anticonvulsant potential

    British Journal of Pharmacology

    Volume 168, Issue 5, March 2013, Pages: 1182–1200, A Boehlen, M Schwake, R Dost, A Kunert, P Fidzinski, U Heinemann and C Gebhardt

    Article first published online : 20 FEB 2013, DOI: 10.1111/bph.12065

  5. You have free access to this content
    Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

    Epilepsia

    Volume 54, Issue 7, July 2013, Pages: 1282–1287, Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota, Hiroshi Arai, Sumimasa Yamashita, Taku Nakagawa, Takanari FujII, Kenji Sugai, Kaoru Imai, Tami Uster, David Chitayat, Shelly Weiss, Hirofumi Kashii, Ryosuke Kusano, Ayumi Matsumoto, Kazuyuki Nakamura, Yoshinobu Oyazato, Mari Maeno, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kayoko Saito, Kiyoshi Hayasaka, Naomichi Matsumoto and Hirotomo Saitsu

    Article first published online : 26 APR 2013, DOI: 10.1111/epi.12200

  6. You have free access to this content
    Antibodies and a cysteine-modifying reagent show correspondence of M current in neurons to KCNQ2 and KCNQ3 K+ channels

    British Journal of Pharmacology

    Volume 137, Issue 8, December 2002, Pages: 1173–1186, John P Roche, Ruth Westenbroek, Abraham J Sorom, Bertil Hille, Ken Mackie and Mark S Shapiro

    Article first published online : 29 JAN 2009, DOI: 10.1038/sj.bjp.0704989

  7. Variable clinical expression in patients with mosaicism for KCNQ2 mutations

    American Journal of Medical Genetics Part A

    Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaetan Lesca, Nicole Philip and Laurent Villard

    Article first published online : 10 MAY 2015, DOI: 10.1002/ajmg.a.37152

  8. Kv7.2 regulates the function of peripheral sensory neurons

    Journal of Comparative Neurology

    Volume 522, Issue 14, 01 October 2014, Pages: 3262–3280, Chih H. King, Eric Lancaster, Daniela Salomon, Elior Peles and Steven S. Scherer

    Article first published online : 12 APR 2014, DOI: 10.1002/cne.23595

  9. You have free access to this content
    Coordinated signal integration at the M-type potassium channel upon muscarinic stimulation

    The EMBO Journal

    Volume 31, Issue 14, July 18, 2012, Pages: 3147–3156, Anastasia Kosenko, Seungwoo Kang, Ida M Smith, Derek L Greene, Lorene K Langeberg, John D Scott and Naoto Hoshi

    Article first published online : 29 MAY 2012, DOI: 10.1038/emboj.2012.156

  10. You have free access to this content
    A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly

    EMBO reports

    Volume 4, Issue 1, January 2003, Pages: 76–81, Michael Schwake, Thomas J Jentsch and Thomas Friedrich

    Article first published online : 1 JAN 2003, DOI: 10.1038/sj.embor.embor715

  11. You have free access to this content
    Properties of single M-type KCNQ2/KCNQ3 potassium channels expressed in mammalian cells

    The Journal of Physiology

    Volume 534, Issue 1, July 2001, Pages: 15–24, A. A. Selyanko, J. K. Hadley and D. A. Brown

    Article first published online : 5 AUG 2004, DOI: 10.1111/j.1469-7793.2001.00015.x

  12. Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 356–367, Maria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, Diane Doummar, Benedicte Heron, Emilie Bourel, Paolo Ambrosino, Francesco Miceli, Michela De Maria, Nathalie Dorison, Stephane Auvin, Bernard Echenne, Julie Oertel, Audrey Riquet, Laetitia Lambert, Marion Gerard, Anne Roubergue, Alain Calender, Cyril Mignot, Maurizio Taglialatela and Gaetan Lesca

    Article first published online : 13 JAN 2014, DOI: 10.1002/humu.22500

  13. You have free access to this content
    The C-terminal domain of βIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of Ranvier

    The Journal of Physiology

    Volume 588, Issue 23, December 2010, Pages: 4719–4730, Jérôme J. Devaux

    Article first published online : 30 NOV 2010, DOI: 10.1113/jphysiol.2010.196022

  14. You have free access to this content
    The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy

    Epilepsia

    Volume 53, Issue 3, March 2012, Pages: 412–424, Martin J. Gunthorpe, Charles H. Large and Raman Sankar

    Article first published online : 5 JAN 2012, DOI: 10.1111/j.1528-1167.2011.03365.x

  15. Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion

    Pediatrics International

    Volume 50, Issue 2, April 2008, Pages: 167–171, Ahmad H. Sadewa, 1 Teguh H. Sasongko, 1 , 1 Myeong J. Lee, 1 Kazunari Daikoku, 2 Akiyo Yamamoto, 3 Takemi Yamasaki, 3 Shigenori Tanaka, 4 Masafumi Matsuo and 5 Hisahide Nishio 1

    Article first published online : 17 MAR 2008, DOI: 10.1111/j.1442-200X.2008.02539.x

    Corrected by:

    Corrigendum: Corrigendum

    Vol. 57, Issue 1, 194, Article first published online: 25 FEB 2015

  16. Early and effective treatment of KCNQ2 encephalopathy

    Epilepsia

    Volume 56, Issue 5, May 2015, Pages: 685–691, Tiziana Pisano, Adam L. Numis, Sinéad B. Heavin, Sarah Weckhuysen, Marco Angriman, Arvid Suls, Barbara Podesta, Ronald L. Thibert, Kevin A. Shapiro, Renzo Guerrini, Ingrid E. Scheffer, Carla Marini and Maria Roberta Cilio

    Article first published online : 16 APR 2015, DOI: 10.1111/epi.12984

  17. You have free access to this content
    Alternative splicing of KCNQ2 potassium channel transcripts contributes to the functional diversity of M-currents

    The Journal of Physiology

    Volume 531, Issue 2, March 2001, Pages: 347–358, Zongming Pan, Alexander A. Selyanko, Jennifer K. Hadley, David A. Brown, Jane E. Dixon and David McKinnon

    Article first published online : 5 AUG 2004, DOI: 10.1111/j.1469-7793.2001.0347i.x

  18. You have free access to this content
    Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

    Epilepsia

    Volume 54, Issue 3, March 2013, Pages: 425–436, Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Gennaro, Roberta Paravidino, Nicola Vanni, Francesca Beccaria, Giuseppe Capovilla, Amedeo Bianchi, Lorella Caffi, Viviana Cardilli, Francesca Darra, Bernardo Dalla Bernardina, Lucia Fusco, Roberto Gaggero, Lucio Giordano, Renzo Guerrini, Gemma Incorpora, Massimo Mastrangelo, Luigina Spaccini, Anna Maria Laverda, Marilena Vecchi, Francesca Vanadia, Pierangelo Veggiotti, Maurizio Viri, Guya Occhi, Mauro Budetta, Maurizio Taglialatela, Domenico A. Coviello, Federico Vigevano and Carlo Minetti

    Article first published online : 29 JAN 2013, DOI: 10.1111/epi.12089

  19. You have free access to this content
    KCNQ channels mediate IKs, a slow K+ current regulating excitability in the rat node of Ranvier

    The Journal of Physiology

    Volume 573, Issue 1, May 2006, Pages: 17–34, J. R. Schwarz, G. Glassmeier, E. C. Cooper, T.-C Kao, H. Nodera, D. Tabuena, R. Kaji and H. Bostock

    Article first published online : 9 MAY 2006, DOI: 10.1113/jphysiol.2006.106815

  20. You have free access to this content
    Rapid Report

    The Journal of Physiology

    Volume 548, Issue 2, April 2003, Pages: 353–360, Snezana Maljevic, Christian Lerche, Guiscard Seebohm, Alexi K. Alekov, Andreas E. Busch and Holger Lerche

    Article first published online : 19 JUL 2004, DOI: 10.1111/j.1469-7793.2003.00353.x