Inhibitory functions probed by TMS and MRS showed no effect of mutations on cortical GABAergic receptor-mediated inhibition and GABA concentration, in both cortical and subcortical regions. However, stronger EEG theta oscillations and stronger and more synchronous gamma oscillations were observed in DEPDC5 and NPRL3 mutations carriers.
These results suggest that DEPDC5 and NPRL3-related epileptic mTORopathies may not directly modulate GABAergic functions but are nonetheless characterized by a stronger neural entrainment that may be reflective of a cortical hyperexcitability mediated by increased mTORC1 signaling.
结果:TMS和MRS探测的抑制功能显示突变对皮质GABA能受体介导的抑制和GABA浓度没有影响,在皮质和皮质下区域。然而,在DEPDC5和NPRL3突变携带者中观察到更强的EEGθ振荡和更强,更同步的伽马振荡。
结论:这些结果表明,DEPDC5和NPRL3相关的癫痫mTORopathy可能不能直接调节GABA能功能,但其特征是更强的神经夹带,这可能反映了由mTORC1信号传导增加介导的皮质过度兴奋。