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There are 1478 results for: content related to: PCDH19 -related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

  1. You have full text access to this OnlineOpen article
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Human Mutation

    Volume 32, Issue 1, January 2011, Pages: E1959–E1975, Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou and Eric LeGuern

    Article first published online : 4 NOV 2010, DOI: 10.1002/humu.21373

  2. Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures

    Clinical Genetics

    Volume 82, Issue 6, December 2012, Pages: 540–545, AK Vincent, A Noor, A Janson, BA Minassian, M Ayub, JB Vincent and CF Morel

    Article first published online : 13 DEC 2011, DOI: 10.1111/j.1399-0004.2011.01812.x

  3. 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

    Article first published online : 17 SEP 2014, DOI: 10.1111/ahg.12082

  4. You have free access to this content
    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

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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

    Article first published online : 4 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03649.x

  6. 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

  7. You have free access to this content
    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

    Article first published online : 11 APR 2011, DOI: 10.1111/j.1528-1167.2011.03063.x

  8. Expression of delta-protocadherins in the spinal cord of the chicken embryo

    Journal of Comparative Neurology

    Volume 520, Issue 7, 1 May 2012, Pages: 1509–1531, Juntang Lin, Congrui Wang and Christoph Redies

    Article first published online : 6 MAR 2012, DOI: 10.1002/cne.22808

  9. You have free access to this content
    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

  10. 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

    Article first published 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

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

  12. You have free access to this content
    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

  13. You have free access to this content
    Fever and fever-related epilepsies

    Epilepsia

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

    Article first published online : 4 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03608.x

  14. 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

    Article first published online : 7 APR 2015, DOI: 10.1002/cne.23746

  15. You have free access to this content
    Complex single gene disorders and epilepsy

    Epilepsia

    Volume 53, Issue s4, September 2012, Pages: 81–91, Aine Merwick, Margaret O’Brien and Norman Delanty

    Article first published online : 4 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03617.x

  16. You have free access to this content
    Epilepsy and the new cytogenetics

    Epilepsia

    Volume 52, Issue 3, March 2011, Pages: 423–432, John C. Mulley and Heather C. Mefford

    Article first published online : 26 JAN 2011, DOI: 10.1111/j.1528-1167.2010.02932.x

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    Genetics of the epilepsies: Genetic twists in the channels and other tales

    Epilepsia

    Volume 51, Issue s1, February 2010, Pages: 33–36, Ingrid E. Scheffer, Yue-Hua Zhang, Jozef Gecz and Leanne Dibbens

    Article first published online : 19 JAN 2010, DOI: 10.1111/j.1528-1167.2009.02440.x

  18. You have free access to this content
    Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection–related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation

    Epilepsia

    Volume 52, Issue 11, November 2011, Pages: e172–e175, Nicola Specchio, Lucia Fusco and Federico Vigevano

    Article first published online : 21 JUL 2011, DOI: 10.1111/j.1528-1167.2011.03193.x

  19. You have free access to this content
    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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    Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants

    Developmental Medicine & Child Neurology

    Volume 53, Issue s2, April 2011, Pages: 11–15, RENZO GUERRINI and MELANIA FALCHI

    Article first published online : 19 APR 2011, DOI: 10.1111/j.1469-8749.2011.03966.x