Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies

Variants in the GABRB3 gene encoding the β3-subunit of the γ-aminobutyric acid type A ( receptor are associated with various developmental and epileptic encephalopathies. Typically, these variants cause a loss-of-function molecular phenotype whereby γ-aminobutyric acid has reduced inhibitory effecti...

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Detalles Bibliográficos
Publicado en:Brain Commun
Main Authors: Absalom, Nathan L, Liao, Vivian W Y, Kothur, Kavitha, Indurthi, Dinesh C, Bennetts, Bruce, Troedson, Christopher, Mohammad, Shekeeb S, Gupta, Sachin, McGregor, Iain S, Bowen, Michael T, Lederer, Damien, Mary, Sandrine, De Waele, Liesbeth, Jansen, Katrien, Gill, Deepak, Kurian, Manju A, McTague, Amy, Møller, Rikke S, Ahring, Philip K, Dale, Russell C, Chebib, Mary
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7869430/
https://ncbi.nlm.nih.gov/pubmed/33585817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcaa162
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