Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome.

Hippocampus showed a strong trend that failed to reach statistical significance (WT: 1 ± 0 vehicle vs. 1.495 ± 0.200 ZNS, p = 0.064; het: 1.605 ± 0.123 vehicle vs. 1.291 ± 0.148 ZNS, p = 0.300).

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For the β2 subunit, the Q390X condition showed lower expression than WT (0.671 ± 0.068, p = 0.019), and the ZNS-treated α1β2γ2/γ2(Q390X) + pcDNA condition rescued the β2 subunit expression (0.934 ± 0.117) to be not different from WT ( p = 0.978), but this increase failed to reach statistical significance compared to the untreated Q390X condition ( p = 0.088) ( Figure 3 C,F).

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The ZNS-treated α1β2γ2/γ2(Q390X) + pcDNA condition (ZNS) showed a trend towards an increase (0.572 ± 0.017), but this was not statistically different from Q390X ( p = 0.106) and was still lower than WT ( p < 0.0001) ( Figure 3 A,D).

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