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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-04-29 , DOI: 10.1002/mgg3.1106
Alba Sanchis-Juan 1, 2 , Marcia A Hasenahuer 3, 4 , James A Baker 3 , Amy McTague 5 , Katy Barwick 5 , Manju A Kurian 5 , Sofia T Duarte 6 , , Keren J Carss 1, 2 , Janet Thornton 3 , F Lucy Raymond 2, 4
Affiliation  

Cys‐loop receptors control neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six missense variants in GABRA2 , a member of this family, have been associated with early infantile epileptic encephalopathy (EIEE). We identified a novel de novo missense variant in GABRA2 in a patient with EIEE and performed protein structural analysis of the seven variants.

中文翻译:

GABRA2中的致病性错义突变的结构分析和脱敏门中新的从头突变的鉴定。

半胱氨酸环受体控制大脑中神经元的兴奋性,其功能障碍导致许多神经系统疾病。最近,该家族成员GABRA2中有6个错义变体与早期婴儿癫痫性脑病(EIEE)相关。我们在EIEE患者的GABRA2中鉴定了一种新型的从头错义变体,并对这七个变体进行了蛋白质结构分析。
更新日期:2020-07-06
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