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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Veröffentlicht in:J Neurosci
Hauptverfasser: Gallagher, Martin J., Song, Luyan, Arain, Fazal, Macdonald, Robert L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Society for Neuroscience 2004
Schlagworte:
Neurobiology of Disease
Online Zugang: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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