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De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Brain. 2018; 
Butler Kameryn M,Moody Olivia A,Schuler Elisabeth,Coryell Jason,Alexander John J,Jenkins Andrew,Escayg An
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摘要

GABAA receptors are ligand-gated anion channels that are important regulators of neuronal inhibition. Mutations in several genes encoding receptor subunits have been identified in patients with various types of epilepsy, ranging from mild febrile seizures to severe epileptic encephalopathy. Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient with severe early-onset epilepsy and developmental delay. Targeted resequencing of 279 additional epilepsy patients identified 19 rare variants from nine GABAA receptor genes, including a novel de novo missense variant in GABRA2 (c.875C > A, p.T292K) and a recurrent missense variant in GABRB3 (... More

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