https://www.selleckchem.com/pr....oducts/cerdulatinib-
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 seven variants. METHODS The novel variant was identified by trio whole-genome sequencing. We performed prote
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