Symonds, J. D. and Zuberi, S. M. (2018) Genetics update: monogenetics, polygene disorders and the quest for modifying genes. Neuropharmacology, 132, pp. 3-19. (doi: 10.1016/j.neuropharm.2017.10.013) (PMID:29037745)
|
Text
145819.pdf - Accepted Version Available under License Creative Commons Attribution Non-commercial No Derivatives. 2MB | |
|
Text
145819Suppl.pdf - Supplemental Material 573kB |
Abstract
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships. In this review we give an overview of the factors that influence genotype-phenotype relationships across this group of diseases as a whole, using specific individual channelopathies as examples. We suggest reasons for the limitations observed in these relationships. We discuss the role of ion channel variation in polygenic disease and highlight research that has contributed to unravelling the complex aetiological nature of these conditions. We focus specifically on the quest for modifying genes in inherited channelopathies, using the voltage-gated sodium channels as an example. Epilepsy related to genetic channelopathy is one area in which precision medicine is showing promise. We will discuss the successes and limitations of precision medicine in these conditions.
| Item Type: | Articles |
|---|---|
| Additional Information: | Dr. Joseph Symonds is currently receiving funding to undertake a full time fellowship in paediatric epilepsy genetics by the Glasgow Children's Hospital Charity (Scottish Charity Number SC007856).Professor Sameer Zuberi receives research funding from Dravet Syndrome UK (Registered charity number 1128289), Glasgow Children's Hospital Charity (Scottish Charity Number SC007856), Epilepsy Research UK (Registered charity number 1100394), and receives an honorarium as Editor-in-Chief of the European Journal of Paediatric Neurology. |
| Keywords: | Epilepsy, genotype, modifier, personalized, phenotype, precision. |
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Zuberi, Dr Sameer and Symonds, Dr Joseph |
| Authors: | Symonds, J. D., and Zuberi, S. M. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing |
| Journal Name: | Neuropharmacology |
| Publisher: | Elsevier |
| ISSN: | 0028-3908 |
| ISSN (Online): | 1873-7064 |
| Published Online: | 14 October 2017 |
| Copyright Holders: | Copyright © 2017 Elsevier Ltd. |
| First Published: | First published in Neuropharmacology 132:3-19 |
| Publisher Policy: | Reproduced in accordance with the publisher copyright policy |
University Staff: Request a correction | Enlighten Editors: Update this record
Deposit and Record Details
Deposit and Record Details