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6 Conclusion DS, a severe neurodevelopmental disorder dominated by SCN1A dysfunction, exhibits profound mechanistic complexity: SCN1A mutations disrupt Nav1.1 expression in GABAergic interneurons through transcriptional dysregulation, pre-mRNA splicing defects, and voltage-gated sodium channel dysfunction, leading to impaired inhibitory synaptic transmission and brainwide excitatory-inhibitory imbalance

4A, in iEESI, the extraction solution (such as methanol, water, etc.) is charged under high pressure (4.5 kV) and directly injected into the sample through the inserted capillary

Ya sabemos que es imprescindible, pero cmo la obtenemos

10.1016/j.ibneur.2023.11.002 100 Mar-BausetS.Llopis-GonzlezA.Zazpe-GarcaI.Mar-SanchisA.Morales-Surez-VarelaM