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There are 26055 results for: content related to: Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

  1. 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

    Version of Record online : 22 APR 2003, DOI: 10.1002/humu.10217

  2. You have full text access to this OnlineOpen article
    LGI Proteins and Epilepsy in Human and Animals

    Journal of Veterinary Internal Medicine

    Volume 29, Issue 4, July/August 2015, Pages: 997–1005, A. Pakozdy, M. Patzl, L. Zimmermann, T.S. Jokinen, U. Glantschnigg, A. Kelemen and D. Hasegawa

    Version of Record online : 1 JUN 2015, DOI: 10.1111/jvim.12610

  3. Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells

    Journal of Cellular Physiology

    Volume 207, Issue 3, June 2006, Pages: 711–721, Nadia. Gabellini, V. Masola, S. Quartesan, B. Oselladore, C. Nobile, R. Michelucci, M. Curtarello, C. Parolin and G. Palù

    Version of Record online : 3 MAR 2006, DOI: 10.1002/jcp.20627

  4. Genetic Counselling in Epilepsy

    The Treatment of Epilepsy, Third Edition

    Simon Shorvon, Emilio Perucca, Jerome Engel, Pages: 341–360, 2009

    Published Online : 22 JUL 2009, DOI: 10.1002/9781444316667.ch27

  5. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 124–135, Annick Salzmann, Michel Guipponi, Peter J. Lyons, Lloyd D. Fricker, Matthew Sapio, Carmen Lambercy, Catherine Buresi, Bouchra Ouled Amar Bencheikh, Fatiha Lahjouji, Reda Ouazzani, Arielle Crespel, Denys Chaigne and Alain Malafosse

    Version of Record online : 31 OCT 2011, DOI: 10.1002/humu.21613

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    LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 530–536, Carlo Nobile, Roberto Michelucci, Simonetta Andreazza, Elena Pasini, Silvio C.E. Tosatto and Pasquale Striano

    Version of Record online : 3 FEB 2009, DOI: 10.1002/humu.20925

  7. Leucine-rich glioma inactivated 1 (Lgi1), an epilepsy-related secreted protein, has a nuclear localization signal and localizes to both the cytoplasm and the nucleus of the caudal ganglionic eminence neurons

    European Journal of Neuroscience

    Volume 36, Issue 3, August 2012, Pages: 2284–2292, Sayaka Kusuzawa, Takao Honda, Yuko Fukata, Masaki Fukata, Shigeaki Kanatani, Daisuke H. Tanaka and Kazunori Nakajima

    Version of Record online : 22 MAY 2012, DOI: 10.1111/j.1460-9568.2012.08129.x

  8. Homozygous Deletion of the LGI1 Gene in Mice Leads to Developmental Abnormalities Resulting in Cortical Dysplasia

    Brain Pathology

    Volume 25, Issue 5, September 2015, Pages: 587–597, Jeane Silva, Suash Sharma and John K. Cowell

    Version of Record online : 1 DEC 2014, DOI: 10.1111/bpa.12225

  9. You have full text access to this OnlineOpen article
    Epi4K: Gene discovery in 4,000 genomes

    Epilepsia

    Volume 53, Issue 8, August 2012, Pages: 1457–1467, The Epi4K Consortium

    Version of Record online : 29 MAY 2012, DOI: 10.1111/j.1528-1167.2012.03511.x

  10. You have free access to this content
    Ion channels in genetic and acquired forms of epilepsy

    The Journal of Physiology

    Volume 591, Issue 4, February 2013, Pages: 753–764, Holger Lerche, Mala Shah, Heinz Beck, Jeff Noebels, Dan Johnston and Angela Vincent

    Version of Record online : 5 DEC 2012, DOI: 10.1113/jphysiol.2012.240606

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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

  12. Homozygous inactivation of the LGI1 gene results in hypomyelination in the peripheral and central nervous systems

    Journal of Neuroscience Research

    Volume 88, Issue 15, 15 November 2010, Pages: 3328–3336, Jeane Silva, Suash Sharma, Bernard Hughes, Y. Eugene Yu and John K. Cowell

    Version of Record online : 20 SEP 2010, DOI: 10.1002/jnr.22496

  13. Arrested Glutamatergic Synapse Development in Human Partial Epilepsy

    Epilepsy Currents

    Volume 10, Issue 6, November/December 2010, Pages: 153–158, Matthew P. Anderson

    Version of Record online : 21 OCT 2010, DOI: 10.1111/j.1535-7511.2010.01386.x

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    Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: The first report from Asian families

    Epilepsia

    Volume 51, Issue 4, April 2010, Pages: 690–693, Jun Kawamata, Akio Ikeda, Youshi Fujita, Keiko Usui, Shun Shimohama and Ryosuke Takahashi

    Version of Record online : 22 SEP 2009, DOI: 10.1111/j.1528-1167.2009.02309.x

  15. 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

    Version of Record online : 6 MAY 2005, DOI: 10.1002/humu.20178

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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

  17. You have free access to this content
    Investigators' Workshop Poster Session 4:30 p.m.-6:00 p.m.

    Epilepsia

    Volume 48, Issue s6, October 2007, Pages: 118–125,

    Version of Record online : 5 OCT 2007, DOI: 10.1111/j.1528-1167.2007.01252_2.x

  18. You have free access to this content
    Evaluation of depression risk in LGI1 mutation carriers

    Epilepsia

    Volume 51, Issue 9, September 2010, Pages: 1685–1690, Gary A. Heiman, Kay Kamberakis, Richard Gill, Sergey Kalachikov, Timothy A. Pedley, W. Allen Hauser and Ruth Ottman

    Version of Record online : 26 JUL 2010, DOI: 10.1111/j.1528-1167.2010.02677.x

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    Sodium channels and the neurobiology of epilepsy

    Epilepsia

    Volume 53, Issue 11, November 2012, Pages: 1849–1859, Megan Oliva, Samuel F. Berkovic and Steven Petrou

    Version of Record online : 20 AUG 2012, DOI: 10.1111/j.1528-1167.2012.03631.x

    Corrected by:

    Erratum: Erratum

    Vol. 54, Issue 3, 570, Version of Record online: 4 MAR 2013

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    The LGI1/Epitempin gene encodes two protein isoforms differentially expressed in human brain

    Journal of Neurochemistry

    Volume 98, Issue 3, August 2006, Pages: 985–991, Sandra Furlan, Federico Roncaroli, Francesca Forner, Libero Vitiello, Elisa Calabria, Salomé Piquer-Sirerol, Giorgio Valle, Jordi Perez-Tur, Roberto Michelucci and Carlo Nobile

    Version of Record online : 19 JUN 2006, DOI: 10.1111/j.1471-4159.2006.03939.x