Literature DB >> 16769131

Human epilepsies: interaction of genetic and acquired factors.

Samuel F Berkovic1, John C Mulley2, Ingrid E Scheffer3, Steven Petrou4.   

Abstract

Epilepsies, once regarded as due to demoniacal possession, can have both genetic and acquired causes, with interaction of these factors in many cases. To date, nearly all the genes discovered to be involved in human epilepsies encode subunits of ion channels, both voltage-gated and ligand-gated. Established acquired causes include serious brain trauma, stroke, tumours and infective lesions. Thus, in terms of exploring the neurobiology of "nature and nurture" in disease, the epilepsies are an excellent paradigm. Here, we review the evidence and discuss the possibility that ion channels are a common biological substrate for both genetic and acquired epilepsies. This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/).

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Year:  2006        PMID: 16769131     DOI: 10.1016/j.tins.2006.05.009

Source DB:  PubMed          Journal:  Trends Neurosci        ISSN: 0166-2236            Impact factor:   13.837


  45 in total

Review 1.  Electrophysiological insights into the enduring effects of early life stress on the brain.

Authors:  Idrish Ali; Michael R Salzberg; Chris French; Nigel C Jones
Journal:  Psychopharmacology (Berl)       Date:  2010-12-17       Impact factor: 4.530

Review 2.  Genetic Testing in Pediatric Epilepsy.

Authors:  Tristan T Sands; Hyunmi Choi
Journal:  Curr Neurol Neurosci Rep       Date:  2017-05       Impact factor: 5.081

3.  The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.

Authors:  Mengnan Tian; Robert L Macdonald
Journal:  J Neurosci       Date:  2012-04-25       Impact factor: 6.167

4.  Cell and gene therapies for refractory epilepsy.

Authors:  Detlev Boison
Journal:  Curr Neuropharmacol       Date:  2007       Impact factor: 7.363

Review 5.  Cortical excitability and neurology: insights into the pathophysiology.

Authors:  Radwa A B Badawy; Tobias Loetscher; Richard A L Macdonell; Amy Brodtmann
Journal:  Funct Neurol       Date:  2012 Jul-Sep

6.  Rats with different thresholds to clonic convulsions induced by DMCM differ in the binding of [3H]-MK-801 and [3H]-ouabain in the membranes of brain regions.

Authors:  Marcos Brandão Contó; José Gilberto Barbosa de Carvalho; Marco Antonio Campana Venditti
Journal:  Neurochem Res       Date:  2012-03-01       Impact factor: 3.996

Review 7.  Distribution and function of voltage-gated sodium channels in the nervous system.

Authors:  Jun Wang; Shao-Wu Ou; Yun-Jie Wang
Journal:  Channels (Austin)       Date:  2017-11-08       Impact factor: 2.581

Review 8.  Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.

Authors:  Jing-Qiong Kang; Robert L Macdonald
Journal:  Trends Mol Med       Date:  2009-08-31       Impact factor: 11.951

Review 9.  mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.

Authors:  Robert L Macdonald; Jing-Qiong Kang
Journal:  Epilepsia       Date:  2012-12       Impact factor: 5.864

10.  Early treatment suppresses the development of spike-wave epilepsy in a rat model.

Authors:  Hal Blumenfeld; Joshua P Klein; Ulrich Schridde; Matthew Vestal; Timothy Rice; Davender S Khera; Chhitij Bashyal; Kathryn Giblin; Crystal Paul-Laughinghouse; Frederick Wang; Anuradha Phadke; John Mission; Ravi K Agarwal; Dario J Englot; Joshua Motelow; Hrachya Nersesyan; Stephen G Waxman; April R Levin
Journal:  Epilepsia       Date:  2007-12-06       Impact factor: 5.864

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