Literature DB >> 26022171

Genetics of pediatric epilepsy.

Abeer J Hani1, Husam M Mikati2, Mohamad A Mikati3.   

Abstract

As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause different epilepsy syndromes, making identification of the specific mutation increasingly more important for prognostication and often more directed treatment. Examples of that include the need to avoid specific drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Children; Epilepsy; Epilepsy syndromes; Genetics

Mesh:

Year:  2015        PMID: 26022171     DOI: 10.1016/j.pcl.2015.03.013

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN: 0031-3955            Impact factor:   3.278


  9 in total

1.  Growing identification of genetic aetiologies for neonatal-onset epilepsies: lessons from the Neonatal Seizure Registry.

Authors:  Amanda G Sandoval Karamian; Fiona M Baumer
Journal:  Acta Paediatr       Date:  2018-11-06       Impact factor: 2.299

2.  Calmodulin regulates KCNQ2 function in epilepsy.

Authors:  Xuhong Zhou; Fei Zhuang; Hong Li; Kun Zheng; Ze Hong; Weijing Feng; Wendi Zhou; Jian Chen
Journal:  Am J Transl Res       Date:  2016-12-15       Impact factor: 4.060

Review 3.  Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.

Authors:  X Jiang; M Lachance; E Rossignol
Journal:  Prog Brain Res       Date:  2016-06-07       Impact factor: 2.453

4.  Severe peri-ictal respiratory dysfunction is common in Dravet syndrome.

Authors:  YuJaung Kim; Eduardo Bravo; Caitlin K Thirnbeck; Lori A Smith-Mellecker; Se Hee Kim; Brian K Gehlbach; Linda C Laux; Xiuqiong Zhou; Douglas R Nordli; George B Richerson
Journal:  J Clin Invest       Date:  2018-02-12       Impact factor: 14.808

5.  Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Authors:  Yimin Wang; Xiaonan Du; Rao Bin; Shanshan Yu; Zhezhi Xia; Guo Zheng; Jianmin Zhong; Yunjian Zhang; Yong-Hui Jiang; Yi Wang
Journal:  Sci Rep       Date:  2017-01-11       Impact factor: 4.379

6.  New differentially expressed genes and differential DNA methylation underlying refractory epilepsy.

Authors:  Xi Liu; Shu Ou; Tao Xu; Shiyong Liu; Jinxian Yuan; Hao Huang; Lu Qin; Hui Yang; Lifen Chen; Xinjie Tan; Yangmei Chen
Journal:  Oncotarget       Date:  2016-12-27

Review 7.  Voltage-Dependent Calcium Channels, Calcium Binding Proteins, and Their Interaction in the Pathological Process of Epilepsy.

Authors:  Jie-Hua Xu; Feng-Ru Tang
Journal:  Int J Mol Sci       Date:  2018-09-12       Impact factor: 5.923

8.  Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Authors:  Jiwon Lee; Chung Lee; Chang-Seok Ki; Jeehun Lee
Journal:  Mol Genet Genomic Med       Date:  2020-07-01       Impact factor: 2.183

9.  Concurrent Quinidine and Phenobarbital in the Treatment of a Patient with 2 KCNT1 Mutations.

Authors:  Camerin C Passey; John Erramouspe; Peter Castellanos; Elizabeth C O'Donnell; David M Denton
Journal:  Curr Ther Res Clin Exp       Date:  2019-02-28
  9 in total

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