Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity

Mutations in GABA(A) receptor subunit genes are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several epilepsy syndromes including childhood absence epilepsy, generalized tonic clonic seizures and the epileptic encephalopathy, Dravet syndrome. The molecula...

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Detalles Bibliográficos
Autores principales: Wang, Juexin, Shen, Dingding, Xia, Geqing, Shen, Wangzhen, Macdonald, Robert L., Xu, Dong, Kang, Jing-Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5071880/
https://www.ncbi.nlm.nih.gov/pubmed/27762395
http://dx.doi.org/10.1038/srep35294

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