Cargando…
The Human Epilepsy Mutation GABRG2(Q390X) Causes Chronic Subunit Accumulation and Neurodegeneration
Genetic epilepsy and neurodegenerative diseases are two common neurological disorders conventionally viewed as being unrelated. A subset of patients with severe genetic epilepsies with impaired development and often death respond poorly to anticonvulsant drug therapy, suggesting a need for new thera...
Autores principales: | Kang, Jing-Qiong, Shen, Wangzhen, Zhou, Chengwen, Xu, Dong, Macdonald, Robert L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482801/ https://www.ncbi.nlm.nih.gov/pubmed/26005849 http://dx.doi.org/10.1038/nn.4024 |
Ejemplares similares
-
Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity
por: Wang, Juexin, et al.
Publicado: (2016) -
GABRG2 Variants Associated with Febrile Seizures
por: Hernandez, Ciria C., et al.
Publicado: (2023) -
Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment
por: Wang, Shitao, et al.
Publicado: (2021) -
Novel GABRG2 mutations cause familial febrile seizures
por: Boillot, Morgane, et al.
Publicado: (2015) -
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants
por: Yang, Ying, et al.
Publicado: (2022)