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GABRG2 Mutations Associated with a spectrum of epilepsy syndromes from Generalized Absence Epilepsy to Dravet syndrome

The GABA(A) receptor γ2 subunit gene GABRG2 is abundantly expressed in the mammalian brain and its encoded γ2 subunit is assembled into αβγ2 receptors, which are the major GABA(A) receptor isoforms in the brain. The γ2 subunits play a critical role in GABA(A) receptor trafficking and clustering at s...

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Publicado en:JAMA Neurol
Autores principales: Kang, Jing-Qiong, Macdonald, Robert L.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5426359/
https://ncbi.nlm.nih.gov/pubmed/27367160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2016.0449
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