Literature DB >> 26316861

Copy Number Matters in Epilepsy.

Heather C Mefford.   

Abstract

Entities:  

Year:  2015        PMID: 26316861      PMCID: PMC4532226          DOI: 10.5698/1535-7511-15.4.180

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  10 in total

1.  Detection of large-scale variation in the human genome.

Authors:  A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

Review 2.  Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Authors:  Saul A Mullen; Gemma L Carvill; Susannah Bellows; Marta A Bayly; Holger Trucks; Dennis Lal; Thoman Sander; Samuel F Berkovic; Leanne M Dibbens; Ingrid E Scheffer; Heather C Mefford
Journal:  Neurology       Date:  2013-09-25       Impact factor: 9.910

3.  Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

Authors:  Leanne M Dibbens; Saul Mullen; Ingo Helbig; Heather C Mefford; Marta A Bayly; Susannah Bellows; Costin Leu; Holger Trucks; Tanja Obermeier; Michael Wittig; Andre Franke; Hande Caglayan; Zuhal Yapici; Thomas Sander; Evan E Eichler; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Journal:  Hum Mol Genet       Date:  2009-07-10       Impact factor: 6.150

4.  Rare copy number variants are an important cause of epileptic encephalopathies.

Authors:  Heather C Mefford; Simone C Yendle; Cynthia Hsu; Joseph Cook; Eileen Geraghty; Jacinta M McMahon; Orvar Eeg-Olofsson; Lynette G Sadleir; Deepak Gill; Bruria Ben-Zeev; Tally Lerman-Sagie; Mark Mackay; Jeremy L Freeman; Eva Andermann; James T Pelakanos; Ian Andrews; Geoffrey Wallace; Evan E Eichler; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Ann Neurol       Date:  2011-12       Impact factor: 10.422

5.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

6.  Large-scale copy number polymorphism in the human genome.

Authors:  Jonathan Sebat; B Lakshmi; Jennifer Troge; Joan Alexander; Janet Young; Pär Lundin; Susanne Månér; Hillary Massa; Megan Walker; Maoyen Chi; Nicholas Navin; Robert Lucito; John Healy; James Hicks; Kenny Ye; Andrew Reiner; T Conrad Gilliam; Barbara Trask; Nick Patterson; Anders Zetterberg; Michael Wigler
Journal:  Science       Date:  2004-07-23       Impact factor: 47.728

7.  Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

Authors:  Carolien G F de Kovel; Holger Trucks; Ingo Helbig; Heather C Mefford; Carl Baker; Costin Leu; Christian Kluck; Hiltrud Muhle; Sarah von Spiczak; Philipp Ostertag; Tanja Obermeier; Ailing A Kleefuss-Lie; Kerstin Hallmann; Michael Steffens; Verena Gaus; Karl M Klein; Hajo M Hamer; Felix Rosenow; Eva H Brilstra; Dorothée Kasteleijn-Nolst Trenité; Marielle E M Swinkels; Yvonne G Weber; Iris Unterberger; Fritz Zimprich; Lydia Urak; Martha Feucht; Karoline Fuchs; Rikke S Møller; Helle Hjalgrim; Peter De Jonghe; Arvid Suls; Ina-Maria Rückert; Heinz-Erich Wichmann; Andre Franke; Stefan Schreiber; Peter Nürnberg; Christian E Elger; Holger Lerche; Ulrich Stephani; Bobby P C Koeleman; Dick Lindhout; Evan E Eichler; Thomas Sander
Journal:  Brain       Date:  2009-10-20       Impact factor: 13.501

8.  A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

Authors:  Sarra Dimassi; Audrey Labalme; Gaetan Lesca; Gabrielle Rudolf; Nadine Bruneau; Edouard Hirsch; Alexis Arzimanoglou; Jacques Motte; Anne de Saint Martin; Nadia Boutry-Kryza; Robin Cloarec; Afaf Benitto; Agnès Ameil; Patrick Edery; Philippe Ryvlin; Julitta De Bellescize; Pierre Szepetowski; Damien Sanlaville
Journal:  Epilepsia       Date:  2013-12-24       Impact factor: 5.864

9.  16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Authors:  Eva M Reinthaler; Dennis Lal; Sebastien Lebon; Michael S Hildebrand; Hans-Henrik M Dahl; Brigid M Regan; Martha Feucht; Hannelore Steinböck; Birgit Neophytou; Gabriel M Ronen; Laurian Roche; Ursula Gruber-Sedlmayr; Julia Geldner; Edda Haberlandt; Per Hoffmann; Stefan Herms; Christian Gieger; Melanie Waldenberger; Andre Franke; Michael Wittig; Susanne Schoch; Albert J Becker; Andreas Hahn; Katrin Männik; Mohammad R Toliat; Georg Winterer; Holger Lerche; Peter Nürnberg; Heather Mefford; Ingrid E Scheffer; Samuel F Berkovic; Jacques S Beckmann; Thomas Sander; Sebastien Jacquemont; Alexandre Reymond; Fritz Zimprich; Bernd A Neubauer
Journal:  Hum Mol Genet       Date:  2014-06-16       Impact factor: 6.150

10.  15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Authors:  Ingo Helbig; Heather C Mefford; Andrew J Sharp; Michel Guipponi; Marco Fichera; Andre Franke; Hiltrud Muhle; Carolien de Kovel; Carl Baker; Sarah von Spiczak; Katherine L Kron; Ines Steinich; Ailing A Kleefuss-Lie; Costin Leu; Verena Gaus; Bettina Schmitz; Karl M Klein; Philipp S Reif; Felix Rosenow; Yvonne Weber; Holger Lerche; Fritz Zimprich; Lydia Urak; Karoline Fuchs; Martha Feucht; Pierre Genton; Pierre Thomas; Frank Visscher; Gerrit-Jan de Haan; Rikke S Møller; Helle Hjalgrim; Daniela Luciano; Michael Wittig; Michael Nothnagel; Christian E Elger; Peter Nürnberg; Corrado Romano; Alain Malafosse; Bobby P C Koeleman; Dick Lindhout; Ulrich Stephani; Stefan Schreiber; Evan E Eichler; Thomas Sander
Journal:  Nat Genet       Date:  2009-01-11       Impact factor: 38.330

  10 in total
  4 in total

1.  A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Authors:  Norman Delanty; Gianpiero L Cavalleri; Katherine A Benson; Maire White; Nicholas M Allen; Susan Byrne; Robert Carton; Elizabeth Comerford; Daniel Costello; Colin Doherty; Brendan Dunleavey; Hany El-Naggar; Nisha Gangadharan; Sinéad Heavin; Hugh Kearney; Nicholas J Lench; John Lynch; Mark McCormack; Mary O' Regan; Karl Podesta; Kevin Power; Anthony S Rogers; Charles A Steward; Brian Sweeney; David Webb; Mary Fitzsimons; Marie Greally
Journal:  Eur J Hum Genet       Date:  2020-04-01       Impact factor: 4.246

Review 2.  Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach.

Authors:  Giovanna Morello; Maria Guarnaccia; Antonio Gianmaria Spampinato; Valentina La Cognata; Velia D'Agata; Sebastiano Cavallaro
Journal:  Mol Neurobiol       Date:  2017-01-24       Impact factor: 5.590

Review 3.  Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.

Authors:  Paul Dunn; Cassie L Albury; Neven Maksemous; Miles C Benton; Heidi G Sutherland; Robert A Smith; Larisa M Haupt; Lyn R Griffiths
Journal:  Front Genet       Date:  2018-02-07       Impact factor: 4.599

4.  Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Authors:  Ana Fernández-Marmiesse; Iria Roca; Felícitas Díaz-Flores; Verónica Cantarín; Mª Socorro Pérez-Poyato; Ana Fontalba; Francisco Laranjeira; Sofia Quintans; Oana Moldovan; Blanca Felgueroso; Montserrat Rodríguez-Pedreira; Rogelio Simón; Ana Camacho; Pilar Quijada; Salvador Ibanez-Mico; Mª Rosario Domingno; Carmen Benito; Rocío Calvo; Antonia Pérez-Cejas; Mª Llanos Carrasco; Feliciano Ramos; Mª Luz Couce; Mª Luz Ruiz-Falcó; Luis Gutierrez-Solana; Margarita Martínez-Atienza
Journal:  Front Neurosci       Date:  2019-11-08       Impact factor: 4.677

  4 in total

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