Literature DB >> 21277190

Epilepsy genetics--past, present, and future.

Annapurna Poduri1, Daniel Lowenstein.   

Abstract

Human epilepsy is a common and heterogeneous condition in which genetics play an important etiological role. We begin by reviewing the past history of epilepsy genetics, a field that has traditionally included studies of pedigrees with epilepsy caused by defects in ion channels and neurotransmitters. We highlight important recent discoveries that have expanded the field beyond the realm of channels and neurotransmitters and that have challenged the notion that single genes produce single disorders. Finally, we project toward an exciting future for epilepsy genetics as large-scale collaborative phenotyping studies come face to face with new technologies in genomic medicine.
Copyright © 2011 Elsevier Ltd. All rights reserved.

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Year:  2011        PMID: 21277190      PMCID: PMC4074083          DOI: 10.1016/j.gde.2011.01.005

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  73 in total

1.  Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

Authors:  A Escayg; B T MacDonald; M H Meisler; S Baulac; G Huberfeld; I An-Gourfinkel; A Brice; E LeGuern; B Moulard; D Chaigne; C Buresi; A Malafosse
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

2.  First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

Authors:  S Baulac; G Huberfeld; I Gourfinkel-An; G Mitropoulou; A Beranger; J F Prud'homme; M Baulac; A Brice; R Bruzzone; E LeGuern
Journal:  Nat Genet       Date:  2001-05       Impact factor: 38.330

3.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Authors:  Sergey Kalachikov; Oleg Evgrafov; Barbara Ross; Melodie Winawer; Christie Barker-Cummings; Filippo Martinelli Boneschi; Chang Choi; Pavel Morozov; Kamna Das; Elita Teplitskaya; Andrew Yu; Eftihia Cayanis; Graciela Penchaszadeh; Andreas H Kottmann; Timothy A Pedley; W Allen Hauser; Ruth Ottman; T Conrad Gilliam
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

4.  A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Authors:  T Sugawara; Y Tsurubuchi; K L Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa
Journal:  Proc Natl Acad Sci U S A       Date:  2001-05-22       Impact factor: 11.205

Review 5.  Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats.

Authors:  Wayne N Frankel
Journal:  Trends Genet       Date:  2009-08-06       Impact factor: 11.639

6.  A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

Authors:  Rima Nabbout; Jean-François Prud'homme; Alexandra Herman; Josué Feingold; Alexis Brice; Olivier Dulac; Eric LeGuern
Journal:  Brain       Date:  2002-12       Impact factor: 13.501

7.  Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

Authors:  Kunio Kitamura; Masako Yanazawa; Noriyuki Sugiyama; Hirohito Miura; Akiko Iizuka-Kogo; Masatomo Kusaka; Kayo Omichi; Rika Suzuki; Yuko Kato-Fukui; Kyoko Kamiirisa; Mina Matsuo; Shin-ichi Kamijo; Megumi Kasahara; Hidefumi Yoshioka; Tsutomu Ogata; Takayuki Fukuda; Ikuko Kondo; Mitsuhiro Kato; William B Dobyns; Minesuke Yokoyama; Ken-ichirou Morohashi
Journal:  Nat Genet       Date:  2002-10-15       Impact factor: 38.330

8.  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

9.  Genetic and environmental factors in febrile seizures: a Danish population-based twin study.

Authors:  Marianne Juel Kjeldsen; Kirsten Ohm Kyvik; Mogens Laue Friis; Kaare Christensen
Journal:  Epilepsy Res       Date:  2002-09       Impact factor: 3.045

Review 10.  The epidemiology of the epilepsies in children.

Authors:  Linda D Cowan
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2002
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  52 in total

1.  Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy.

Authors:  Annapurna Poduri
Journal:  Epilepsy Curr       Date:  2015 May-Jun       Impact factor: 7.500

Review 2.  New approaches for studying synaptic development, function, and plasticity using Drosophila as a model system.

Authors:  C Andrew Frank; Xinnan Wang; Catherine A Collins; Avital A Rodal; Quan Yuan; Patrik Verstreken; Dion K Dickman
Journal:  J Neurosci       Date:  2013-11-06       Impact factor: 6.167

3.  Does epilepsy run in families? Getting closer to the answer.

Authors:  Sheryl R Haut
Journal:  Epilepsy Curr       Date:  2014 Nov-Dec       Impact factor: 7.500

Review 4.  Genes important for otoneurological diagnostic purposes - current status and future prospects.

Authors:  K Pawlak-Osiñska; K Linkowska; T Grzybowski
Journal:  Acta Otorhinolaryngol Ital       Date:  2018-06       Impact factor: 2.124

Review 5.  Seizures and epilepsy: an overview for neuroscientists.

Authors:  Carl E Stafstrom; Lionel Carmant
Journal:  Cold Spring Harb Perspect Med       Date:  2015-06-01       Impact factor: 6.915

6.  De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Authors:  Krishna R Veeramah; Janelle E O'Brien; Miriam H Meisler; Xiaoyang Cheng; Sulayman D Dib-Hajj; Stephen G Waxman; Dinesh Talwar; Santhosh Girirajan; Evan E Eichler; Linda L Restifo; Robert P Erickson; Michael F Hammer
Journal:  Am J Hum Genet       Date:  2012-02-23       Impact factor: 11.025

7.  Advances in epilepsy genetics and genomics.

Authors:  Jennifer A Kearney
Journal:  Epilepsy Curr       Date:  2012-07       Impact factor: 7.500

8.  The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

Authors:  Maurizio De Fusco; Riccardo Vago; Pasquale Striano; Carlo Di Bonaventura; Federico Zara; Davide Mei; Min Seuk Kim; Shmuel Muallem; Yunjia Chen; Qin Wang; Renzo Guerrini; Giorgio Casari
Journal:  Ann Neurol       Date:  2014-01-02       Impact factor: 10.422

Review 9.  About sleep's role in memory.

Authors:  Björn Rasch; Jan Born
Journal:  Physiol Rev       Date:  2013-04       Impact factor: 37.312

10.  Familial risk of epilepsy: a population-based study.

Authors:  Anna L Peljto; Christie Barker-Cummings; Vincent M Vasoli; Cynthia L Leibson; W Allen Hauser; Jeffrey R Buchhalter; Ruth Ottman
Journal:  Brain       Date:  2014-01-26       Impact factor: 13.501

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