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Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

The purpose of the study was to explore the pathogenic mechanisms underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel γ2 subunit gene (GABRG2) frameshift mutation. Four affected and one unaffected individuals carried a c.1329delC GABRG2 mutation resulting in a...

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Detalhes bibliográficos
Main Authors: Tian, Mengnan, Mei, Davide, Freri, Elena, Hernandez, Ciria C., Granata, Tiziana, Shen, Wangzhen, Macdonald, Robert L., Guerrini, Renzo
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3762699/
https://ncbi.nlm.nih.gov/pubmed/23069679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2012.10.008
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