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The Juvenile Myoclonic Epilepsy GABA(A) Receptor α1 Subunit Mutation A322D Produces Asymmetrical, Subunit Position-Dependent Reduction of Heterozygous Receptor Currents and α1 Subunit Protein Expression
Individuals with autosomal dominant juvenile myoclonic epilepsy are heterozygous for a GABA(A) receptor α1 subunit mutation (α1A322D). GABA(A) receptor αβγ subunits are arranged around the pore in a β-α-β-α-γ sequence (counterclockwise from the synaptic cleft). Therefore, each α1 subunit has differe...
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| Publicado no: | J Neurosci |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society for Neuroscience
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6729321/ https://ncbi.nlm.nih.gov/pubmed/15201329 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1301-04.2004 |
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