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Slow Degradation and Aggregation In Vitro of Mutant GABA(A) Receptor γ2(Q351X) Subunits Associated with Epilepsy

The GABA(A) receptor γ2 subunit nonsense mutation Q351X has been associated with the genetic epilepsy syndrome generalized epilepsy with febrile seizures plus, which includes a spectrum of seizures types from febrile seizures to Dravet syndrome. Although most genetic epilepsy syndromes are mild and...

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Autors principals: Kang, Jing-Qiong, Shen, Wangzhen, Lee, Melissa, Gallagher, Martin J., Macdonald, Robert L.
Format: Artigo
Idioma:Inglês
Publicat: Society for Neuroscience 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2976503/
https://ncbi.nlm.nih.gov/pubmed/20943930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2320-10.2010
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