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The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression

The GABA(A) receptor γ2 subunit mutation, Q351X, associated with generalized epilepsy with febrile seizures plus (GEFS+), created a loss of function with homozygous expression. However, heterozygous γ2(+/−) gene deletion mice are seizure free, suggesting that the loss of one GABRG2 allele alone in h...

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Bibliografiske detaljer
Main Authors: Kang, Jing-Qiong, Shen, Wangzhen, Macdonald, Robert L.
Format: Artigo
Sprog:Inglês
Udgivet: Society for Neuroscience 2009
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2754234/
https://ncbi.nlm.nih.gov/pubmed/19261880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.4772-08.2009
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