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Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy

Genetic epilepsy is a common disorder with phenotypic variation, but the basis for the variation is unknown. Comparing the molecular pathophysiology of mutations in the same epilepsy gene may provide mechanistic insights into the phenotypic heterogeneity. GABRG2 is an established epilepsy gene, and...

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Publicado en:Hum Mol Genet
Autores principales: Warner, Timothy A., Shen, Wangzhen, Huang, Xuan, Liu, Zhong, Macdonald, Robert L., Kang, Jing-Qiong
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5179921/
https://ncbi.nlm.nih.gov/pubmed/27340224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw168
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