Literature DB >> 26251648

TALE of an SCN8A-Associated Epileptic Encephalopathy Mouse Model.

Jennifer A Kearney.   

Abstract

Entities:  

Year:  2015        PMID： 26251648      PMCID： PMC4519024          DOI： 10.5698/1535-7597-15.2.83

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


× No keyword cloud information.
  10 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.  Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides.

Authors:  Benedikt Wefers; Melanie Meyer; Oskar Ortiz; Martin Hrabé de Angelis; Jens Hansen; Wolfgang Wurst; Ralf Kühn
Journal:  Proc Natl Acad Sci U S A       Date:  2013-02-20       Impact factor: 11.205

Review 3.  A guide to genome engineering with programmable nucleases.

Authors:  Hyongbum Kim; Jin-Soo Kim
Journal:  Nat Rev Genet       Date:  2014-04-02       Impact factor: 53.242

4.  Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.

Authors:  Frank H Yu; Massimo Mantegazza; Ruth E Westenbroek; Carol A Robbins; Franck Kalume; Kimberly A Burton; William J Spain; G Stanley McKnight; Todd Scheuer; William A Catterall
Journal:  Nat Neurosci       Date:  2006-08-20       Impact factor: 24.884

5.  Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a.

Authors:  Julie M Jones; Miriam H Meisler
Journal:  Genesis       Date:  2013-12-12       Impact factor: 2.487

6.  Expression of a site-specific endonuclease stimulates homologous recombination in mammalian cells.

Authors:  P Rouet; F Smih; M Jasin
Journal:  Proc Natl Acad Sci U S A       Date:  1994-06-21       Impact factor: 11.205

7.  Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.

Authors:  Ikuo Ogiwara; Hiroyuki Miyamoto; Noriyuki Morita; Nafiseh Atapour; Emi Mazaki; Ikuyo Inoue; Tamaki Takeuchi; Shigeyoshi Itohara; Yuchio Yanagawa; Kunihiko Obata; Teiichi Furuichi; Takao K Hensch; Kazuhiro Yamakawa
Journal:  J Neurosci       Date:  2007-05-30       Impact factor: 6.167

8.  A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.

Authors:  Maureen G Price; Jong W Yoo; Daniel L Burgess; Fang Deng; Richard A Hrachovy; James D Frost; Jeffrey L Noebels
Journal:  J Neurosci       Date:  2009-07-08       Impact factor: 6.167

9.  Highly efficient targeted mutagenesis in mice using TALENs.

Authors:  Sudeepta Kumar Panda; Benedikt Wefers; Oskar Ortiz; Thomas Floss; Bettina Schmid; Christian Haass; Wolfgang Wurst; Ralf Kühn
Journal:  Genetics       Date:  2013-08-26       Impact factor: 4.562

10.  Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?

Authors:  Jason M Kehrl; Kinshuk Sahaya; Hans M Dalton; Raelene A Charbeneau; Kevin T Kohut; Kristen Gilbert; Madeline C Pelz; Jack Parent; Richard R Neubig
Journal:  Mamm Genome       Date:  2014-04-05       Impact factor: 2.957
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.