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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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| Main Authors: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Society for Neuroscience
2009
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| 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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