Literature DB >> 25678893

Complex genetic interactions in a mouse model of absence epilepsy.

Alan L Goldin, Andrew Escayg.   

Abstract

Entities:  

Year:  2015        PMID: 25678893      PMCID: PMC4320963          DOI: 10.5698/1535-7597-15.1.50

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


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  9 in total

Review 1.  Childhood absence epilepsy: genes, channels, neurons and networks.

Authors:  Vincenzo Crunelli; Nathalie Leresche
Journal:  Nat Rev Neurosci       Date:  2002-05       Impact factor: 34.870

2.  Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy.

Authors:  M K Oliva; T C McGarr; B J Beyer; E Gazina; D I Kaplan; L Cordeiro; E Thomas; S D Dib-Hajj; S G Waxman; W N Frankel; S Petrou
Journal:  Neurobiol Dis       Date:  2014-03-19       Impact factor: 5.996

3.  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

4.  The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

Authors:  Melinda S Martin; Bin Tang; Ligia A Papale; Frank H Yu; William A Catterall; Andrew Escayg
Journal:  Hum Mol Genet       Date:  2007-09-19       Impact factor: 6.150

5.  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

6.  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

7.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Authors:  Gemma L Carvill; Sinéad B Heavin; Simone C Yendle; Jacinta M McMahon; Brian J O'Roak; Joseph Cook; Adiba Khan; Michael O Dorschner; Molly Weaver; Sophie Calvert; Stephen Malone; Geoffrey Wallace; Thorsten Stanley; Ann M E Bye; Andrew Bleasel; Katherine B Howell; Sara Kivity; Mark T Mackay; Victoria Rodriguez-Casero; Richard Webster; Amos Korczyn; Zaid Afawi; Nathanel Zelnick; Tally Lerman-Sagie; Dorit Lev; Rikke S Møller; Deepak Gill; Danielle M Andrade; Jeremy L Freeman; Lynette G Sadleir; Jay Shendure; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Nat Genet       Date:  2013-05-26       Impact factor: 38.330

8.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

Review 9.  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

  9 in total

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