The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through

The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through

The GABRG2 nonsense mutation, Q40X, is associated with the severe epilepsy syndrome, Dravet syndrome, and is predicted to generate a premature translation–termination codon (PTC) in the GABAA receptor γ2 subunit mRNA in a position that codes for the first amino acid of the mutant subunit. We determi...

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Bibliographic Details
Main Authors: Xuan Huang, Mengnan Tian, Ciria C. Hernandez, Ningning Hu, Robert L. Macdonald
Format: Article
Language:English
Published: Elsevier 2012-10-01
Series:Neurobiology of Disease
Subjects:
GABAA receptors
Dravet syndrome
Generalized epilepsy
γ2 subunit
GABRG2(Q40X) mutation
Loss of function
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996112002288

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http://www.sciencedirect.com/science/article/pii/S0969996112002288

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