Literature DB >> 28347857

What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?

Bobby P C Koeleman1.   

Abstract

The search for genes associated with common epilepsy, including both focal and generalised epilepsies, has been intensive in the past few decades. Consequently, our understanding of the genetic background of common epilepsy has improved considerably, and current genetic studies have optimised their design accordingly, showing much promise for the future. Nevertheless, we can only explain a fraction of the heritability of common epilepsy with the currently known genetic factors. These factors have been identified with a range of different gene mapping techniques, including linkage analysis of epilepsy families, association studies, and recent large scale sequencing studies, which individually are optimal to detect a certain class of genetic variation. Here, we give a selected overview of the genetic studies that illustrate the evolution of epilepsy genetics and contribute to the evidence for a polygenic basis of common epilepsy that likely involves both rare and common disease variants.
Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Common epilepsy; GWAS; Genetic architecture; Polygenic; WES

Mesh:

Year:  2017        PMID: 28347857     DOI: 10.1016/j.neulet.2017.03.042

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  8 in total

1.  Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Authors:  Zied Landoulsi; Fatma Laatar; Eric Noé; Saloua Mrabet; Mouna Ben Djebara; Guillaume Achaz; Caroline Nava; Stéphanie Baulac; Imen Kacem; Amina Gargouri-Berrechid; Riadh Gouider; Eric Leguern
Journal:  Neurogenetics       Date:  2018-06-12       Impact factor: 2.660

2.  Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

Authors: 
Journal:  Nat Commun       Date:  2018-12-10       Impact factor: 14.919

Review 3.  Exome sequencing in genetic disease: recent advances and considerations.

Authors:  Jay P Ross; Patrick A Dion; Guy A Rouleau
Journal:  F1000Res       Date:  2020-05-06

4.  Analysis of gene variants in the GASH/Sal model of epilepsy.

Authors:  Elena Díaz-Casado; Ricardo Gómez-Nieto; José M de Pereda; Luis J Muñoz; María Jara-Acevedo; Dolores E López
Journal:  PLoS One       Date:  2020-03-13       Impact factor: 3.240

5.  Using common genetic variants to find drugs for common epilepsies.

Authors:  Nasir Mirza; Remi Stevelink; Basel Taweel; Bobby P C Koeleman; Anthony G Marson
Journal:  Brain Commun       Date:  2021-12-04

6.  Respiratory alkalosis provokes spike-wave discharges in seizure-prone rats.

Authors:  Kathryn A Salvati; George M P R Souza; Adam C Lu; Matthew L Ritger; Patrice Guyenet; Stephen B Abbott; Mark P Beenhakker
Journal:  Elife       Date:  2022-01-04       Impact factor: 8.140

7.  Polygenic risk scores of several subtypes of epilepsies in a founder population.

Authors:  Claudia Moreau; Rose-Marie Rébillard; Stefan Wolking; Jacques Michaud; Frédérique Tremblay; Alexandre Girard; Joanie Bouchard; Berge Minassian; Catherine Laprise; Patrick Cossette; Simon L Girard
Journal:  Neurol Genet       Date:  2020-03-27

8.  Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings.

Authors:  Christina Stier; Adham Elshahabi; Yiwen Li Hegner; Raviteja Kotikalapudi; Justus Marquetand; Christoph Braun; Holger Lerche; Niels K Focke
Journal:  Neurology       Date:  2021-05-27       Impact factor: 9.910

  8 in total

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