The GABAA Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum

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  Figure 2.
Figure 2.

Heterozygous and homozygous α1β2γ2S(R43Q) receptors had reduced current amplitudes. A, Whole-cell currents were obtained from either hα1β2γ2S (wt), hα1β2γ2S(R43Q) (het), or hα1β2γ2S (R43Q) (hom) receptors in free assembly or forced rβ2-α1γ2L assembly. GABA (1 mm) was applied for 28 sec. Currents are shown to scale (dark traces) and normalized to wild-type currents (gray traces). The time scale for the first trace applies to all traces. B, C, Peak amplitudes (B) and relative current intensities (C) of heterozygous and homozygous hα1β2γ2S(R43Q) and rβ2-α1γ2L(R43Q) receptor currents were significantly reduced with both free and forced assembly (*p < 0.01 vs wild type; †p < 0.01 vs heterozygous; data are from 9-17 patches from 4 batches of cells).

  1. The Journal of Neuroscience vol. 24 no. 40 8672-8677
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