Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.,Molecular Genetics & Genomic Medicine

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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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