Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia (English)
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In:
Epilepsia
;
55
, 9
;
e106-e111
;
2014
- Article (Journal) / Electronic Resource
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Title:Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
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Contributors:Farhan, Sali M. K. ( author ) / Murphy, Lisa M. ( author ) / Robinson, John F. ( author ) / Wang, Jian ( author ) / Siu, Victoria M. ( author ) / Rupar, C. Anthony ( author ) / Prasad, Asuri N. ( author ) / Hegele, Robert A. ( author ) / FORGE Canada Consortium
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Published in:Epilepsia ; 55, 9 ; e106-e111
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Publisher:
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Publication date:2014-09-01
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Size:6 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 55, Issue 9
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1317
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Epilepsy: Asia versus AfricaBhalla, Devender / Tchalla, Achille Edem / Marin, Benoît / Ngoungou, Edgard Brice / Tan, Chong Tin / Preux, Pierre‐Marie et al. | 2014
- 1322
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Epilepsy is ubiquitous, but more devastating in the poorer regions of the world… or is it?Wilmshurst, Jo M. / Birbeck, Gretchen L. / Newton, Charles R. et al. | 2014
- 1326
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Commentary: Epilepsy is a Global ProblemPerucca, Emilio / Covanis, Athanasios / Dua, Tarun et al. | 2014
- 1329
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Sofie's journeyLevy, Candy / Levy, Brad et al. | 2014
- 1331
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Changes in quality of life after epilepsy surgery: The role of reprioritization response shiftSajobi, Tolulope T. / Fiest, Kirsten M. / Wiebe, Samuel et al. | 2014
- 1339
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Delays in time to surgery for minorities with temporal lobe epilepsyThompson, Atalie C. / Ivey, Susan L. / Lahiff, Maureen / Betjemann, John P. et al. | 2014
- 1347
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Why U.S. epilepsy hospital stays rose in 2006Cárdenas, Víctor M. / Román, Gustavo C. / Pérez, Adriana / Hauser, W. Allen et al. | 2014
- 1355
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Self‐harm in people with epilepsy: A retrospective cohort studyMeyer, Nicholas / Voysey, Merryn / Holmes, Jane / Casey, Deborah / Hawton, Keith et al. | 2014
- 1366
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Interrater agreement for Critical Care EEG TerminologyGaspard, Nicolas / Hirsch, Lawrence J. / LaRoche, Suzette M. / Hahn, Cecil D. / Westover, M. Brandon / the Critical Care EEG Monitoring Research Consortium et al. | 2014
- 1374
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Automated versus manual hippocampal segmentation in preoperative and postoperative patients with epilepsyGermeyan, Sierra C. / Kalikhman, David / Jones, Lucy / Theodore, William H. et al. | 2014
- 1380
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Improved mapping of interictal epileptiform discharges with EEG‐fMRI and voxel‐wise functional connectivity analysisLiu, Junjie V. / Kobylarz, Erik J. / Darcey, Terrance M. / Lu, Zhengang / Wu, Yu‐Chien / Meng, Ming / Jobst, Barbara C. et al. | 2014
- 1389
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Yield of epileptiform electroencephalogram abnormalities in incident unprovoked seizures: A population‐based studyBaldin, Elisa / Hauser, W. Allen / Buchhalter, Jeffrey R. / Hesdorffer, Dale C. / Ottman, Ruth et al. | 2014
- 1399
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Preictal surrender of post–spike slow waves to spike‐related high‐frequency oscillations (80–200 Hz) is associated with seizure initiationSato, Yosuke / Doesburg, Sam M. / Wong, Simeon M. / Boelman, Cyrus / Ochi, Ayako / Otsubo, Hiroshi et al. | 2014
- 1406
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Contralateral interictal spikes are related to tapetum damage in left temporal lobe epilepsyPustina, Dorian / Doucet, Gaelle / Skidmore, Christopher / Sperling, Michael / Tracy, Joseph et al. | 2014
- 1415
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Cerebral glucose hypometabolism is associated with mitochondrial dysfunction in patients with intractable epilepsy and cortical dysplasiaTenney, Jeffrey R. / Rozhkov, Leonid / Horn, Paul / Miles, Lili / Miles, Michael V. et al. | 2014
- 1423
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Contralateral dissociation between neural activity and cerebral blood volume during recurrent acute focal neocortical seizuresHarris, Sam / Boorman, Luke / Bruyns‐Haylett, Michael / Kennerley, Aneurin / Ma, Hongtao / Zhao, Mingrui / Overton, Paul G. / Schwartz, Theodore H. / Berwick, Jason et al. | 2014
- 1431
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Patient‐reported outcome measures in pediatric epilepsy: A content analysis using World Health Organization definitionsSadeghi, Salva / Fayed, Nora / Ronen, Gabriel M. et al. | 2014
- 1438
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IDH1 mutation is associated with seizures and protoplasmic subtype in patients with low‐grade gliomasLiubinas, Simon V. / D'Abaco, Giovanna M. / Moffat, Bradford M. / Gonzales, Michael / Feleppa, Frank / Nowell, Cameron J. / Gorelik, Alexandra / Drummond, Katharine J. / O'Brien, Terence J. / Kaye, Andrew H. et al. | 2014
- 1444
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Safety and effectiveness of long‐term treatment with diazepam auto‐injector administered by caregivers in an outpatient setting for the treatment of acute repetitive seizuresRogin, Joanne / Wheless, James / Abou‐Khalil, Bassel / Wolter, Kevin D. / Pixton, Glenn C. / Sherman, Nancy A. / Shukla, Rajesh B. / Roland, Carl L. / Sommerville, Kenneth W. et al. | 2014
- 1452
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Enhanced steroid dosing reduces seizures during antiparasitic treatment for cysticercosis and early afterGarcia, Hector H. / Gonzales, Isidro / Lescano, Andres G. / Bustos, Javier A. / Pretell, E. Javier / Saavedra, Herbert / Nash, Theodore E. / The Cysticercosis Working Group in Peru et al. | 2014
- 1460
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Anxiety and locomotion in Genetic Absence Epilepsy Rats from Strasbourg (GAERS): Inclusion of Wistar rats as a second controlMarques‐Carneiro, José Eduardo / Faure, Jean‐Baptiste / Cosquer, Brigitte / Koning, Estelle / Ferrandon, Arielle / de Vasconcelos, Anne Pereira / Cassel, Jean‐Christophe / Nehlig, Astrid et al. | 2014
- 1469
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The NeuroPace trial: Missing knowledge and insightsOsorio, Ivan et al. | 2014
- 1469
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Clarification of previously published perspectiveTrimmer, James S. et al. | 2014
- 1470
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In response: The RNS System multicenter randomized double‐blinded controlled trial of responsive cortical stimulation for adjunctive treatment of intractable partial epilepsy: Knowledge and insights gainedMorrell, Martha J. et al. | 2014
- 1471
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Announcements| 2014
- 1474
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Erratum| 2014
- e94
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Valnoctamide enhances phasic inhibition: A potential target mechanism for the treatment of benzodiazepine‐refractory status epilepticusSpampanato, Jay / Dudek, F. Edward et al. | 2014
- e99
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The variable phenotypes of KCNQ‐related epilepsyAllen, Nicholas M. / Mannion, Maria / Conroy, Judith / Lynch, Sally A. / Shahwan, Amre / Lynch, Bryan / King, Mary D. et al. | 2014
- e106
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Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxiaFarhan, Sali M. K. / Murphy, Lisa M. / Robinson, John F. / Wang, Jian / Siu, Victoria M. / Rupar, C. Anthony / Prasad, Asuri N. / Hegele, Robert A. / FORGE Canada Consortium et al. | 2014