Literature DB >> 21094615

The genetics of epilepsy--the past, the present and future.

Mark I Rees1.   

Abstract

A BRIEF HISTORY OF HUMAN GENETICS: Sixty years is an appropriate yardstick for many reasons, not least for the remarkable advances in medicine, public health, psychology and biological disciplines. Particularly relevant is the approaching 60th anniversary of the discovery of the structure of DNA, which unlocked the driving force of nature and spawned a plethora of scientific discoveries and economic development through the Bitoech industry. Prior to 1953, and before Watson and Crick burst into the Cambridge pub with their eureka moment, it was known that chromosomes were important, the first principles of clinical cytogenetics were emerging and the rules of heritable traits were well-advanced, but without the basic framework or mechanism. Human Molecular Genetics arrived when the first mutations were linked to human disorders reflecting the advances in understanding the genetic code, assembly of protein building blocks and methodological advances in reading the physical code (all be it very difficult process at the time). Accelerated by the introduction of recombinant gene technology in the 1980s, and in conjunction with the development of linked genetic marker maps, the catalogue of genes associated with disease has risen exponentially with classical examples such as sickle cell disease, cystic fibrosis and Huntington's disease. The advances approached super-sonic dimensions when genes were found in Mendelian families, and mapping strategies were adopted using the variation map of the human genome (SNP's, di-nucleotide repeats), in addition to targeted candidate gene approaches aided by the significant database resources available to investigators. Super-sonic gave way to light-speed with the publication of the 3 billion letters of the genetic code which constitutes the human genome, followed quickly by genomes in plants, bacteria, pathogens, fruits and vegetables, and a menagerie of eukaryotic and prokaryotic animals, often representing model systems for genomic and pathophysiological research. In short don't blink or you'll miss the next revolution - too late, it's just happened!
Copyright © 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Entities:  

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Year:  2010        PMID: 21094615     DOI: 10.1016/j.seizure.2010.10.029

Source DB:  PubMed          Journal:  Seizure        ISSN: 1059-1311            Impact factor:   3.184


  12 in total

Review 1.  The relevance of individual genetic background and its role in animal models of epilepsy.

Authors:  P Elyse Schauwecker
Journal:  Epilepsy Res       Date:  2011-10-15       Impact factor: 3.045

2.  Advances in epilepsy genetics and genomics.

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

3.  Seizure characteristics and outcomes in 508 Chinese adult patients undergoing primary resection of low-grade gliomas: a clinicopathological study.

Authors:  Gan You; Zhi-Yi Sha; Wei Yan; Wei Zhang; Yong-Zhi Wang; Shao-Wu Li; Lin Sang; Zi Wang; Gui-Lin Li; Shou-Wei Li; Yi-Jun Song; Chun-Sheng Kang; Tao Jiang
Journal:  Neuro Oncol       Date:  2011-12-19       Impact factor: 12.300

Review 4.  Genomic medicine and neurological disease.

Authors:  Philip M Boone; Wojciech Wiszniewski; James R Lupski
Journal:  Hum Genet       Date:  2011-05-19       Impact factor: 4.132

5.  P2Y12 receptor gene polymorphisms are associated with epilepsy.

Authors:  Qi Wang; Nan-Rui Shi; Peng Lv; Juan Liu; Ji-Zhou Zhang; Bin-Lu Deng; Yan-Qin Zuo; Jie Yang; Xin Wang; Xiang Chen; Xiu-Min Hu; Ting-Ting Liu; Jie Liu
Journal:  Purinergic Signal       Date:  2022-02-17       Impact factor: 3.765

6.  Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

Authors:  Irene Toldo; Alice Bruson; Alberto Casarin; Leonardo Salviati; Clementina Boniver; Stefano Sartori; Pasquale Montagna; Pier Antonio Battistella; Maurizio Clementi
Journal:  J Headache Pain       Date:  2011-06-29       Impact factor: 7.277

7.  From genetics to genomics of epilepsy.

Authors:  Silvio Garofalo; Marisa Cornacchione; Alfonso Di Costanzo
Journal:  Neurol Res Int       Date:  2012-05-08

8.  Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

Authors:  Maila Giannandrea; Fabrizia C Guarnieri; Niels H Gehring; Elena Monzani; Fabio Benfenati; Andreas E Kulozik; Flavia Valtorta
Journal:  PLoS One       Date:  2013-06-20       Impact factor: 3.240

9.  Epilepsy is a risk factor for sudden cardiac arrest in the general population.

Authors:  Abdennasser Bardai; Robert J Lamberts; Marieke T Blom; Anne M Spanjaart; Jocelyn Berdowski; Sebastiaan R van der Staal; Henk J Brouwer; Rudolph W Koster; Josemir W Sander; Roland D Thijs; Hanno L Tan
Journal:  PLoS One       Date:  2012-08-14       Impact factor: 3.240

10.  Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population.

Authors:  Jianming Jiang; Xiaoling Chen; Wenting Liu; Yan Zhao; Yangtai Guan; Yan Han; Feng Wang; Jiajun Lu; Zhiliang Yu; Zhenfang Du; Xianning Zhang
Journal:  Neural Regen Res       Date:  2012-01-15       Impact factor: 5.135

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