Literature DB >> 16924025

A novel GABRG2 mutation associated with febrile seizures.

D Audenaert1, E Schwartz, K G Claeys, L Claes, L Deprez, A Suls, T Van Dyck, L Lagae, C Van Broeckhoven, R L Macdonald, P De Jonghe.   

Abstract

Mutations in the gene encoding the gamma2 subunit of the gamma-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+). The authors analyzed GABRG2 in 47 unrelated patients with CAE, FS, and GEFS+ and identified a novel mutation that cosegregated with FS. Electrophysiologic studies demonstrated altered current desensitization and reduced benzodiazepine enhancement in mutant receptors.

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Year:  2006        PMID： 16924025     DOI： 10.1212/01.wnl.0000230145.73496.a2

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  59 in total

1.  The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation.

Authors:  Martin J Gallagher; Li Ding; Ankit Maheshwari; Robert L Macdonald
Journal:  Proc Natl Acad Sci U S A       Date:  2007-08-01       Impact factor: 11.205

Review 2.  Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Authors:  Hongjie Yuan; Chian-Ming Low; Olivia A Moody; Andrew Jenkins; Stephen F Traynelis
Journal:  Mol Pharmacol       Date:  2015-04-22       Impact factor: 4.436

3.  A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Authors:  Ann J Johnston; Jing-Qiong Kang; Robert L Macdonald; Mark I Rees; Wangzhen Shen; William O Pickrell; Thomas D Cushion; Jeffrey S Davies; Kristin Baer; Jonathan G L Mullins; Carrie L Hammond; Seo-Kyung Chung; Rhys H Thomas; Cathy White; Phil E M Smith
Journal:  Neurobiol Dis       Date:  2014-01-07       Impact factor: 5.996

4.  Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.

Authors:  Timothy A Warner; Zhong Liu; Robert L Macdonald; Jing-Qiong Kang
Journal:  Epilepsy Res       Date:  2017-04-30       Impact factor: 3.045

5.  A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Authors:  Siddharth Srivastava; Julie Cohen; Jonathan Pevsner; Swaroop Aradhya; Dianalee McKnight; Elizabeth Butler; Michael Johnston; Ali Fatemi
Journal:  Am J Med Genet A       Date:  2014-08-13       Impact factor: 2.802

Review 6.  Febrile seizures: mechanisms and relationship to epilepsy.

Authors:  Céline M Dubé; Amy L Brewster; Tallie Z Baram
Journal:  Brain Dev       Date:  2009-02-15       Impact factor: 1.961

Review 7.  Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.

Authors:  Jing-Qiong Kang
Journal:  Epilepsy Res       Date:  2017-08-26       Impact factor: 3.045

8.  Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy.

Authors:  John C Oakley; Franck Kalume; Frank H Yu; Todd Scheuer; William A Catterall
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-20       Impact factor: 11.205

9.  SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

Authors:  Huihui Sun; Yuehua Zhang; Jianmin Liang; Xiaoyan Liu; Xiuwei Ma; Husheng Wu; Keming Xu; Jiong Qin; Yu Qi; Xiru Wu
Journal:  J Hum Genet       Date:  2008-06-20       Impact factor: 3.172

10.  Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.

Authors:  Mengnan Tian; Davide Mei; Elena Freri; Ciria C Hernandez; Tiziana Granata; Wangzhen Shen; Robert L Macdonald; Renzo Guerrini
Journal:  Neurobiol Dis       Date:  2012-10-13       Impact factor: 5.996
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