Literature DB >> 27226047

Primer Part 1-The building blocks of epilepsy genetics.

Ingo Helbig1,2, Erin L Heinzen3, Heather C Mefford4.   

Abstract

This is the first of a two-part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we cover the foundations of epilepsy genetics including genetic epidemiology and the range of genetic variants that can affect the risk for developing epilepsy. We discuss various epidemiologic study designs that have been applied to the genetics of the epilepsies including population studies, which provide compelling evidence for a strong genetic contribution in many epilepsies. We discuss genetic risk factors varying in size, frequency, inheritance pattern, effect size, and phenotypic specificity, and provide examples of how genetic risk factors within the various categories increase the risk for epilepsy. We end by highlighting trends in epilepsy genetics including the increasing use of massive parallel sequencing technologies. Wiley Periodicals, Inc.
© 2016 International League Against Epilepsy.

Entities:  

Keywords:  Epilepsy; Epilepsy gene; Genetics; Genomics; Heritability; Recurrence risk; Seizures; Twins

Mesh:

Year:  2016        PMID: 27226047     DOI: 10.1111/epi.13381

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  7 in total

1.  Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Authors:  Lisa-Marie Niestroj; Eduardo Perez-Palma; Daniel P Howrigan; Yadi Zhou; Feixiong Cheng; Elmo Saarentaus; Peter Nürnberg; Remi Stevelink; Mark J Daly; Aarno Palotie; Dennis Lal
Journal:  Brain       Date:  2020-07-01       Impact factor: 13.501

Review 2.  Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.

Authors:  Wei-Liang Chen; Heather C Mefford
Journal:  Neurotherapeutics       Date:  2021-09-16       Impact factor: 6.088

Review 3.  Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies.

Authors:  Kimberly Goodspeed; Rachel M Bailey; Suyash Prasad; Chanchal Sadhu; Jessica A Cardenas; Mary Holmay; Deborah A Bilder; Berge A Minassian
Journal:  Front Neurol       Date:  2022-06-21       Impact factor: 4.086

4.  Regulatory Status of Pesticide Residues in Cannabis: Implications to Medical Use in Neurological Diseases.

Authors:  Dorina V Pinkhasova; Laura E Jameson; Kendra D Conrow; Michael P Simeone; Allan Peter Davis; Thomas C Wiegers; Carolyn J Mattingly; Maxwell C K Leung
Journal:  Curr Res Toxicol       Date:  2021-03-01

5.  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

6.  The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.

Authors: 
Journal:  Epilepsia       Date:  2019-04-05       Impact factor: 5.864

7.  Type and etiology of pediatric epilepsy in Jordan. A multi-center study.

Authors:  Abdelkarim A Al-Qudah; Abla Albsoul-Younes; Amira T Masri; Samah K AbuRahmah; Ibrahim A Alabadi; Omar A Nafi; Lubna F Gharaibeh; Amer A Murtaja; Lina H Al-Sakran; Haya A Arabiat; Abdallah A Al-Shorman
Journal:  Neurosciences (Riyadh)       Date:  2017-10       Impact factor: 0.906

  7 in total

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