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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869430/
https://www.ncbi.nlm.nih.gov/pubmed/33585817
http://dx.doi.org/10.1093/braincomms/fcaa162

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869430/
https://www.ncbi.nlm.nih.gov/pubmed/33585817
http://dx.doi.org/10.1093/braincomms/fcaa162

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