Literature DB >> 29478594

Genetics of epilepsy.

Danielle Nolan1, John Fink2.   

Abstract

Discovery of nearly 200 genes implicated in epilepsy and insights into the molecular and cellular pathways involved are transforming our knowledge of the causes, classifications, diagnosis, and in some cases, treatments for individuals with chronic seizure disorders. Numerous disorders once considered "idiopathic" are now recognized as genetic conditions. Despite these remarkable advances, the cause of epilepsy for most individuals is unknown. We present a clinical approach to patients with epilepsy, presenting an algorithm for clinical and genetic testing, and review genes implicated in epilepsy and their associated syndromes.
Copyright © 2018 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  GABRA1; KCNT2; SCN1A; SLC2A1; channelopathies; epilepsy; epileptic encephalopathies; febrile seizures; myoclonic seizures; seizures

Mesh：

Substances：

Year:  2018        PMID： 29478594     DOI： 10.1016/B978-0-444-64076-5.00030-2

Source DB:  PubMed          Journal:  Handb Clin Neurol        ISSN： 0072-9752


  11 in total

Review 1.  The role of somatic mutational events in the pathogenesis of epilepsy.

Authors:  Philip H Iffland; Peter B Crino
Journal:  Curr Opin Neurol       Date:  2019-04       Impact factor: 5.710

2.  Modeling the Interactions Between Sodium Channels Provides Insight Into the Negative Dominance of Certain Channel Mutations.

Authors:  Echrak Hichri; Zoja Selimi; Jan P Kucera
Journal:  Front Physiol       Date:  2020-11-05       Impact factor: 4.566

3.  The voltage-gated sodium channel inhibitor, 4,9-anhydrotetrodotoxin, blocks human Nav1.1 in addition to Nav1.6.

Authors:  Nicholas Denomme; April L Lukowski; Jacob M Hull; Margaret B Jameson; Alexandra A Bouza; Alison R H Narayan; Lori L Isom
Journal:  Neurosci Lett       Date:  2020-02-27       Impact factor: 3.046

4.  Functional Genomics of Epileptogenesis in Animal Models and Humans.

Authors:  Diego A Forero
Journal:  Cell Mol Neurobiol       Date:  2020-07-28       Impact factor: 5.046

5.  Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms.

Authors:  Jing Gan; Qianyun Cai; Peter Galer; Dan Ma; Xiaolu Chen; Jichong Huang; Shan Bao; Rong Luo
Journal:  Medicine (Baltimore)       Date:  2019-08       Impact factor: 1.817

Review 6.  Prospects and Limitations Related to the Use of MicroRNA as a Biomarker of Epilepsy in Children: A Systematic Review.

Authors:  Beata Rzepka-Migut; Justyna Paprocka
Journal:  Life (Basel)       Date:  2021-01-04

7.  De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Authors:  Matthew Halvorsen; Laura Gould; Xiaohan Wang; Gariel Grant; Raquel Moya; Rachel Rabin; Michael J Ackerman; David J Tester; Peter T Lin; John G Pappas; Matthew T Maurano; David B Goldstein; Richard W Tsien; Orrin Devinsky
Journal:  Proc Natl Acad Sci U S A       Date:  2021-12-28       Impact factor: 11.205

8.  Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish.

Authors:  Nayeli G Reyes-Nava; Hung-Chun Yu; Curtis R Coughlin; Tamim H Shaikh; Anita M Quintana
Journal:  Biol Open       Date:  2020-04-13       Impact factor: 2.422

Review 9.  Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy.

Authors:  Bruno Sterlini; Floriana Fruscione; Simona Baldassari; Fabio Benfenati; Federico Zara; Anna Corradi
Journal:  Int J Mol Sci       Date:  2020-01-12       Impact factor: 5.923

10.  Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions.

Authors:  Bernard S Chang; Vaishnav Krishnan; Chris G Dulla; Nathalie Jette; Eric D Marsh; Penny A Dacks; Vicky Whittemore; Annapurna Poduri
Journal:  Epilepsy Curr       Date:  2020-01-22       Impact factor: 7.500
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