Literature DB >> 27273810

A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.

Espen Lien1, Anne Karine Våtevik2, Rune Østern3, Bjørn Ivar Haukanes4, Gunnar Houge4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27273810     DOI： 10.1002/ana.24699

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  3 in total

1.  Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.

Authors:  Ciria C Hernandez; Wenshu XiangWei; Ningning Hu; Dingding Shen; Wangzhen Shen; Andre H Lagrange; Yujia Zhang; Lifang Dai; Changhong Ding; Zhaohui Sun; Jiasheng Hu; Hongmin Zhu; Yuwu Jiang; Robert L Macdonald
Journal:  Brain       Date:  2019-07-01       Impact factor: 13.501

2.  GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.

Authors:  Ciria C Hernandez; Yujia Zhang; Ningning Hu; Dingding Shen; Wangzhen Shen; Xiaoyan Liu; Weijing Kong; Yuwu Jiang; Robert L Macdonald
Journal:  Sci Rep       Date:  2017-11-21       Impact factor: 4.379

3.  Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.

Authors:  Nathan L Absalom; Vivian W Y Liao; Kavitha Kothur; Dinesh C Indurthi; Bruce Bennetts; Christopher Troedson; Shekeeb S Mohammad; Sachin Gupta; Iain S McGregor; Michael T Bowen; Damien Lederer; Sandrine Mary; Liesbeth De Waele; Katrien Jansen; Deepak Gill; Manju A Kurian; Amy McTague; Rikke S Møller; Philip K Ahring; Russell C Dale; Mary Chebib
Journal:  Brain Commun       Date:  2020-10-01
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.