Literature DB >> 17525034

Genetics of epilepsy: epilepsy research foundation workshop report.

Sanjay Sisodiya1, J Helen Cross, Ingmar Blümcke, David Chadwick, John Craig, Peter B Crino, Paul Debenham, Norman Delanty, Frances Elmslie, Mark Gardiner, Jeffrey Golden, David Goldstein, David A Greenberg, Renzo Guerrini, Michael Hanna, John Harris, Paul Harrison, Michael R Johnson, George Kirov, Dimitri M Kullman, Andrew Makoff, Carla Marini, Rima Nabbout, Lina Nashef, Jeffrey L Noebels, Ruth Ottman, Munir Pirmohamed, Asla Pitkänen, Ingrid Scheffer, Simon Shorvon, Graeme Sills, Nicholas Wood, Sameer Zuberi.   

Abstract

The Sixth Epilepsy Research Foundation workshop, held in Oxford in March 2006, brought together basic scientists, geneticists, epidemiologists, statisticians, pharmacologists and clinicians to consider progress, issues and strategies for harnessing genetics to improve the understanding and treatment of the epilepsies. General principles were considered, including the fundamental importance of clear study design, adequate patient numbers, defi ned phenotypes, robust statistical data handling, and follow-up of genetic discoveries. Topics where some progress had been made were considered including chromosomal abnormalities, neurodevelopment, hippocampal sclerosis, juvenile myoclonic epilepsy, focal cortical dysplasia and pharmacogenetics. The ethical aspects of epilepsy genetics were reviewed. Principles and limitations of collaboration were discussed. Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy.

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Year:  2007        PMID: 17525034     DOI: 10.1684/epd.2007.0107

Source DB:  PubMed          Journal:  Epileptic Disord        ISSN: 1294-9361            Impact factor:   1.819


  3 in total

Review 1.  Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.

Authors:  X Jiang; M Lachance; E Rossignol
Journal:  Prog Brain Res       Date:  2016-06-07       Impact factor: 2.453

2.  Hippocampal abnormalities in an MR imaging series of patients with tuberous sclerosis.

Authors:  H P P Gama; A J da Rocha; R M F Valério; C J da Silva; L A L Garcia
Journal:  AJNR Am J Neuroradiol       Date:  2010-01-06       Impact factor: 3.825

3.  CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures.

Authors:  Elsa Rossignol; Illya Kruglikov; Arn M J M van den Maagdenberg; Bernardo Rudy; Gord Fishell
Journal:  Ann Neurol       Date:  2013-07-01       Impact factor: 11.274

  3 in total

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