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Structural Analysis of Pathogenic Missense Mutations in GABRA2 and Identificati...

Sanchis-Juan, A; Hasenahuer, MA; Baker, JA; McTague, A; Barwick, K; Kurian, MA; Duarte, ST; Carss, KJ; Thornton, J; Raymond, FL

Background: 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 se...

Date: 2020   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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