GABA(A) receptor β3 subunit mutation D120N causes Lennox–Gastaut syndrome in knock-in mice

The Lennox–Gastaut syndrome is a devastating early-onset epileptic encephalopathy, associated with severe behavioural abnormalities. Its pathophysiology, however, is largely unknown. A de novo mutation (c.G358A, p.D120N) in the human GABA type-A receptor β3 subunit gene (GABRB3) has been identified...

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Detalles Bibliográficos
Autores principales: Qu, Shimian, Catron, Mackenzie, Zhou, Chengwen, Janve, Vaishali, Shen, Wangzhen, Howe, Rachel K, Macdonald, Robert L
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/PMC7238755/
https://www.ncbi.nlm.nih.gov/pubmed/32467926
http://dx.doi.org/10.1093/braincomms/fcaa028

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