Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes | Zendy

YiWu Shi | Zendy; Qi Zhang | Zendy; Kefu Cai | Zendy; Sarah Poliquin | Zendy; Wangzhen Shen | Zendy; Nathan D. Winters | Zendy; YongHong Yi | Zendy; Jie Wang | Zendy; Ningning Hu | Zendy; Robert L. Macdonald | Zendy; WeiPing Liao | Zendy; JingQiong Kang | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

Author(s) -

YiWu Shi,

Qi Zhang,

Kefu Cai,

Sarah Poliquin,

Wangzhen Shen,

Nathan D. Winters,

YongHong Yi,

Jie Wang,

Ningning Hu,

Robert L. Macdonald,

WeiPing Liao,

JingQiong Kang

Publication year - 2019

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awz250

Subject(s) - gabaa receptor , epilepsy , neuroscience , autism , protein subunit , biology , receptor , genetics , mutant , mutation , medicine , psychiatry , gene

Mutations in GABRB3, which encodes the β3 subunit of GABAA receptors, cause variable epilepsy syndromes with autism and intellectual disability. Shi et al. report that mutant β3 subunits reduce expression of wildtype γ2 subunits, which are critical for receptor synaptic clustering. However, they do so to different degrees, contributing to disease heterogeneity.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research