Literature DB >> 26900369

Finding the Missing Pieces: The Microdeletion Burden in GGE.

Heather C Mefford.   

Abstract

Year:  2016        PMID： 26900369      PMCID： PMC4749107          DOI： 10.5698/1535-7597-16.1.16

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


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  10 in total

1.  Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

Authors:  Erin L Heinzen; Rodney A Radtke; Thomas J Urban; Gianpiero L Cavalleri; Chantal Depondt; Anna C Need; Nicole M Walley; Paola Nicoletti; Dongliang Ge; Claudia B Catarino; John S Duncan; Dalia Kasperaviciūte; Sarah K Tate; Luis O Caboclo; Josemir W Sander; Lisa Clayton; Kristen N Linney; Kevin V Shianna; Curtis E Gumbs; Jason Smith; Kenneth D Cronin; Jessica M Maia; Colin P Doherty; Massimo Pandolfo; David Leppert; Lefkos T Middleton; Rachel A Gibson; Michael R Johnson; Paul M Matthews; David Hosford; Reetta Kälviäinen; Kai Eriksson; Anne-Mari Kantanen; Thomas Dorn; Jörg Hansen; Günter Krämer; Bernhard J Steinhoff; Heinz-Gregor Wieser; Dominik Zumsteg; Marcos Ortega; Nicholas W Wood; Julie Huxley-Jones; Mohamad Mikati; William B Gallentine; Aatif M Husain; Patrick G Buckley; Ray L Stallings; Mihai V Podgoreanu; Norman Delanty; Sanjay M Sisodiya; David B Goldstein
Journal:  Am J Hum Genet       Date:  2010-04-15       Impact factor: 11.025

2.  Epilepsies in twins: genetics of the major epilepsy syndromes.

Authors:  S F Berkovic; R A Howell; D A Hay; J L Hopper
Journal:  Ann Neurol       Date:  1998-04       Impact factor: 10.422

3.  Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

Authors:  Anne T Berg; Samuel F Berkovic; Martin J Brodie; Jeffrey Buchhalter; J Helen Cross; Walter van Emde Boas; Jerome Engel; Jacqueline French; Tracy A Glauser; Gary W Mathern; Solomon L Moshé; Douglas Nordli; Perrine Plouin; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2010-02-26       Impact factor: 5.864

4.  Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

Authors:  Heather C Mefford; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Karen Buysse; Carl Baker; Andre Franke; Alain Malafosse; Pierre Genton; Pierre Thomas; Christina A Gurnett; Stefan Schreiber; Alexander G Bassuk; Michel Guipponi; Ulrich Stephani; Ingo Helbig; Evan E Eichler
Journal:  PLoS Genet       Date:  2010-05-20       Impact factor: 5.917

5.  The risks of seizure disorders among relatives of patients with childhood onset epilepsy.

Authors:  J F Annegers; W A Hauser; V E Anderson; L T Kurland
Journal:  Neurology       Date:  1982-02       Impact factor: 9.910

6.  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

Review 7.  Duplication hotspots, rare genomic disorders, and common disease.

Authors:  Heather C Mefford; Evan E Eichler
Journal:  Curr Opin Genet Dev       Date:  2009-05-22       Impact factor: 5.578

8.  Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.

Authors: 
Journal:  Lancet Neurol       Date:  2014-07-30       Impact factor: 44.182

9.  Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

Authors:  Dennis Lal; Ann-Kathrin Ruppert; Holger Trucks; Herbert Schulz; Carolien G de Kovel; Dorothée Kasteleijn-Nolst Trenité; Anja C M Sonsma; Bobby P Koeleman; Dick Lindhout; Yvonne G Weber; Holger Lerche; Claudia Kapser; Christoph J Schankin; Wolfram S Kunz; Rainer Surges; Christian E Elger; Verena Gaus; Bettina Schmitz; Ingo Helbig; Hiltrud Muhle; Ulrich Stephani; Karl M Klein; Felix Rosenow; Bernd A Neubauer; Eva M Reinthaler; Fritz Zimprich; Martha Feucht; Rikke S Møller; Helle Hjalgrim; Peter De Jonghe; Arvid Suls; Wolfgang Lieb; Andre Franke; Konstantin Strauch; Christian Gieger; Claudia Schurmann; Ulf Schminke; Peter Nürnberg; Thomas Sander
Journal:  PLoS Genet       Date:  2015-05-07       Impact factor: 5.917

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

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