Literature DB >> 22936886

Advances in epilepsy genetics and genomics.

Jennifer A Kearney1.   

Abstract

Current and emerging technologies for mutation identification are changing the landscape of genetics and accelerating the pace of discovery. Application of high throughput genomic analysis to epilepsy will advance our understanding of the genetic contribution to common forms of epilepsy and suggest novel therapeutic strategies for improved treatment.

Entities:  

Year:  2012        PMID： 22936886      PMCID： PMC3423212          DOI： 10.5698/1535-7511-12.4.143

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


  34 in total

1.  Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Authors:  T Sander; H Schulz; K Saar; E Gennaro; M C Riggio; A Bianchi; F Zara; D Luna; C Bulteau; A Kaminska; D Ville; C Cieuta; F Picard; J F Prud'homme; L Bate; A Sundquist; R M Gardiner; G A Janssen; G J de Haan; D G Kasteleijn-Nolst-Trenité; A Bader; D Lindhout; O Riess; T F Wienker; D Janz; A Reis
Journal:  Hum Mol Genet       Date:  2000-06-12       Impact factor: 6.150

Review 2.  Sodium channel mutations in epilepsy and other neurological disorders.

Authors:  Miriam H Meisler; Jennifer A Kearney
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

3.  Genetic factors in seizures: a population-based study of 47,626 US, Norwegian and Danish twin pairs.

Authors:  Marianne J Kjeldsen; Linda A Corey; Marit H Solaas; Mogens L Friis; Jennifer R Harris; Kirsten O Kyvik; Kaare Christensen; John M Pellock
Journal:  Twin Res Hum Genet       Date:  2005-04       Impact factor: 1.587

4.  Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type.

Authors:  M Durner; M A Keddache; L Tomasini; S Shinnar; S R Resor; J Cohen; C Harden; S L Moshe; D Rosenbaum; H Kang; K Ballaban-Gil; S Hertz; D R Labar; D Luciano; S Wallace; D Yohai; I Klotz; E Dicker; D A Greenberg
Journal:  Ann Neurol       Date:  2001-03       Impact factor: 10.422

5.  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

6.  Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

Authors:  Carla Marini; Ingrid E Scheffer; Kathryn M Crossland; Bronwyn E Grinton; Fiona L Phillips; Jacinta M McMahon; Samantha J Turner; Joanne T Dean; Sara Kivity; Aziz Mazarib; Miriam Y Neufeld; Amos D Korczyn; Louise A Harkin; Leanne M Dibbens; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Journal:  Epilepsia       Date:  2004-05       Impact factor: 5.864

7.  Mapping of genes predisposing to idiopathic generalized epilepsy.

Authors:  F Zara; A Bianchi; G Avanzini; S Di Donato; B Castellotti; P I Patel; M Pandolfo
Journal:  Hum Mol Genet       Date:  1995-07       Impact factor: 6.150

8.  Exploration of the genetic architecture of idiopathic generalized epilepsies.

Authors:  Anne Hempelmann; Kirsten P Taylor; Armin Heils; Susanne Lorenz; Jean-Francois Prud'homme; Rima Nabbout; Olivier Dulac; Gabrielle Rudolf; Federico Zara; Amedeo Bianchi; Robert Robinson; R Mark Gardiner; Athanasios Covanis; Dick Lindhout; Ulrich Stephani; Christian E Elger; Yvonne G Weber; Holger Lerche; Peter Nürnberg; Katherine L Kron; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic; Thomas Sander
Journal:  Epilepsia       Date:  2006-10       Impact factor: 5.864

Review 9.  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

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
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  4 in total

1.  Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy.

Authors:  S Polani; M Dean; A Lichter-Peled; S Hendrickson; S Tsang; X Fang; Y Feng; W Qiao; G Avni; G Kahila Bar-Gal
Journal:  J Genet Mutat Disord       Date:  2022-01

Review 2.  Genomic biomarkers of SUDEP in brain and heart.

Authors:  Edward Glasscock
Journal:  Epilepsy Behav       Date:  2013-10-17       Impact factor: 2.937

3.  The elusive ideal of inclusiveness: lessons from a worldwide survey of neurologists on the ethical issues raised by whole-genome sequencing.

Authors:  Thierry Hurlimann; Iris Jaitovich Groisman; Béatrice Godard
Journal:  BMC Med Ethics       Date:  2017-04-11       Impact factor: 2.652

4.  NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.

Authors:  Valentina La Cognata; Giovanna Morello; Giulia Gentile; Francesca Cavalcanti; Rita Cittadella; Francesca Luisa Conforti; Elvira Valeria De Marco; Angela Magariello; Maria Muglia; Alessandra Patitucci; Patrizia Spadafora; Velia D'Agata; Martino Ruggieri; Sebastiano Cavallaro
Journal:  Curr Genomics       Date:  2018-09       Impact factor: 2.236
  4 in total

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