Literature DB >> 29225532

Understanding Network Connections Connects Genotype to Epilepsy Phenotype.

Jonathan E Kurz, Dane M Chetkovich.   

Abstract

Entities:  

Year:  2017        PMID： 29225532      PMCID： PMC5716121          DOI： 10.5698/1535-7597.17.4.239

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


× No keyword cloud information.
  11 in total

1.  De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Authors:  Krishna R Veeramah; Janelle E O'Brien; Miriam H Meisler; Xiaoyang Cheng; Sulayman D Dib-Hajj; Stephen G Waxman; Dinesh Talwar; Santhosh Girirajan; Evan E Eichler; Linda L Restifo; Robert P Erickson; Michael F Hammer
Journal:  Am J Hum Genet       Date:  2012-02-23       Impact factor: 11.025

2.  Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.

Authors:  Nicole A Hawkins; Melinda S Martin; Wayne N Frankel; Jennifer A Kearney; Andrew Escayg
Journal:  Neurobiol Dis       Date:  2010-12-13       Impact factor: 5.996

3.  Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice.

Authors:  I M Raman; L K Sprunger; M H Meisler; B P Bean
Journal:  Neuron       Date:  1997-10       Impact factor: 17.173

4.  Regulation of Thalamic and Cortical Network Synchrony by Scn8a.

Authors:  Christopher D Makinson; Brian S Tanaka; Jordan M Sorokin; Jennifer C Wong; Catherine A Christian; Alan L Goldin; Andrew Escayg; John R Huguenard
Journal:  Neuron       Date:  2017-02-23       Impact factor: 17.173

5.  Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

Authors:  M M Trudeau; J C Dalton; J W Day; L P W Ranum; M H Meisler
Journal:  J Med Genet       Date:  2005-10-19       Impact factor: 6.318

6.  Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis.

Authors:  Hal Blumenfeld; Angelika Lampert; Joshua P Klein; John Mission; Michael C Chen; Maritza Rivera; Sulayman Dib-Hajj; Avis R Brennan; Bryan C Hains; Stephen G Waxman
Journal:  Epilepsia       Date:  2008-07-14       Impact factor: 5.864

7.  Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.

Authors:  Christopher D Makinson; Brian S Tanaka; Tyra Lamar; Alan L Goldin; Andrew Escayg
Journal:  Neurobiol Dis       Date:  2014-04-02       Impact factor: 5.996

Review 8.  Neurons that fire together also conspire together: is normal sleep circuitry hijacked to generate epilepsy?

Authors:  Mark P Beenhakker; John R Huguenard
Journal:  Neuron       Date:  2009-06-11       Impact factor: 17.173

9.  Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.

Authors:  Ligia A Papale; Barbara Beyer; Julie M Jones; Lisa M Sharkey; Sergio Tufik; Michael Epstein; Verity A Letts; Miriam H Meisler; Wayne N Frankel; Andrew Escayg
Journal:  Hum Mol Genet       Date:  2009-03-02       Impact factor: 6.150

Review 10.  Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.

Authors:  Janelle E O'Brien; Miriam H Meisler
Journal:  Front Genet       Date:  2013-10-28       Impact factor: 4.599
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.