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There are 25422 results for: content related to: Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection–related epilepsy syndrome): The role of protocadherin 19 ( PCDH19 ) gene mutation

  1. PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 627–634, Christel Depienne and Eric LeGuern

    Version of Record online : 14 FEB 2012, DOI: 10.1002/humu.22029

  2. PCDH19-related epilepsy in two mosaic male patients

    Epilepsia

    Volume 57, Issue 3, March 2016, Pages: e51–e55, Alessandra Terracciano, Marina Trivisano, Raffaella Cusmai, Luca De Palma, Lucia Fusco, Claudia Compagnucci, Enrico Bertini, Federico Vigevano and Nicola Specchio

    Version of Record online : 14 JAN 2016, DOI: 10.1111/epi.13295

  3. Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy

    Epileptic Disorders

    Volume 18, Issue 1, March 2016, Pages: 26–33, Hiroko Ikeda, Katsumi Imai, Hitoshi Ikeda, Hideo Shigematsu, Yukitoshi Takahashi, Yushi Inoue, Norimichi Higurashi and Shinichi Hirose

    Version of Record online : 15 MAR 2016, DOI: 10.1684/epd.2016.0803

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    Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations

    Epilepsia

    Volume 52, Issue 7, July 2011, Pages: 1251–1257, Nicola Specchio, Carla Marini, Alessandra Terracciano, Davide Mei, Marina Trivisano, Federico Sicca, Lucia Fusco, Raffaella Cusmai, Francesca Darra, Bernardo Dalla Bernardina, Enrico Bertini, Renzo Guerrini and Federico Vigevano

    Version of Record online : 11 APR 2011, DOI: 10.1111/j.1528-1167.2011.03063.x

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    Focal seizures with affective symptoms are a major feature of PCDH19 gene–related epilepsy

    Epilepsia

    Volume 53, Issue 12, December 2012, Pages: 2111–2119, Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Alessandra Terracciano, Lucio Parmeggiani, Annarita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina and Renzo Guerrini

    Version of Record online : 4 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03649.x

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    Fever and fever-related epilepsies

    Epilepsia

    Volume 53, Issue s4, September 2012, Pages: 3–8, J. Helen Cross

    Version of Record online : 4 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03608.x

  7. Differential expression of protocadherin-19, protocadherin-17, and cadherin-6 in adult zebrafish brain

    Journal of Comparative Neurology

    Volume 523, Issue 9, 15 June 2015, Pages: 1419–1442, Qin Liu, Sunil Bhattarai, Nan Wang and Alicja Sochacka-Marlowe

    Version of Record online : 7 APR 2015, DOI: 10.1002/cne.23746

  8. Identification of Four Novel PCDH19 Mutations and Prediction of Their Functional Impact

    Annals of Human Genetics

    Volume 78, Issue 6, November 2014, Pages: 389–398, Emanuela Leonardi, Stefano Sartori, Marilena Vecchi, Elisa Bettella, Roberta Polli, Luca De Palma, Clementina Boniver and Alessandra Murgia

    Version of Record online : 17 SEP 2014, DOI: 10.1111/ahg.12082

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    Monday, December 4, 2006 Poster Session IV 7:30 a.m. – 4:30 p.m.

    Epilepsia

    Volume 47, Issue s4, October 2006, Pages: 289–373,

    Version of Record online : 30 OCT 2006, DOI: 10.1111/j.1528-1167.2006.00001_8.x

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    Sunday, December 3, 2006 Poster Session II 7:30 a.m.–4:30 p.m.

    Epilepsia

    Volume 47, Issue s4, October 2006, Pages: 119–204,

    Version of Record online : 30 OCT 2006, DOI: 10.1111/j.1528-1167.2006.00001_6.x

  11. PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

    American Journal of Medical Genetics Part A

    Volume 170, Issue 6, June 2016, Pages: 1585–1589, Isabelle Thiffault, Emily Farrow, Laurie Smith, Jennifer Lowry, Lee Zellmer, Benjamin Black, Ahmed Abdelmoity, Neil Miller, Sarah Soden and Carol Saunders

    Version of Record online : 26 MAR 2016, DOI: 10.1002/ajmg.a.37617

  12. You have free access to this content
    Abstracts

    Epilepsia

    Volume 56, Issue S1, December 2015, Pages: 3–263,

    Version of Record online : 30 NOV 2015, DOI: 10.1111/epi.13241

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    Abstracts

    Epilepsia

    Volume 53, Issue s5, September 2012, Pages: 1–245,

    Version of Record online : 11 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03677.x

  14. Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 10, October 2010, Pages: 2475–2481, Seema M. Jamal, Raveen K. Basran, Stephanie Newton, Zhenyuan Wang and Jeff M. Milunsky

    Version of Record online : 9 SEP 2010, DOI: 10.1002/ajmg.a.33611

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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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    Monday, December 4, 2006 Poster Session III 7:30 a.m. – 4:30 p.m.

    Epilepsia

    Volume 47, Issue s4, October 2006, Pages: 204–289,

    Version of Record online : 30 OCT 2006, DOI: 10.1111/j.1528-1167.2006.00001_7.x

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    Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations

    Developmental Medicine & Child Neurology

    Volume 54, Issue 12, December 2012, Pages: 1144–1148, SILKE APPENZELLER, INGO HELBIG, ULRICH STEPHANI, MARTIN HÄUSLER, GERHARD KLUGER, MAY BUNGEROTH, STEFANIE MÜLLER, GREGOR KUHLENBÄUMER and ANDREAS VAN BAALEN

    Version of Record online : 15 OCT 2012, DOI: 10.1111/j.1469-8749.2012.04435.x

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    Tuesday, December 5, 2006 Pediatric Highlight Session 10:30 a.m.–12:00 p.m.

    Epilepsia

    Volume 47, Issue s4, October 2006, Pages: 13–18,

    Version of Record online : 30 OCT 2006, DOI: 10.1111/j.1528-1167.2006.00001_3.x

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    Plenary Session

    Epilepsia

    Volume 47, Issue s4, October 2006, Page: 377,

    Version of Record online : 30 OCT 2006, DOI: 10.1111/j.1528-1167.2006.00001_12.x

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    Abstracts

    Developmental Medicine & Child Neurology

    Volume 54, Issue s4, June 2012, Pages: 5–212,

    Version of Record online : 7 MAY 2012, DOI: 10.1111/j.1469-8749.2012.04283.x