Sodium channelopathy-related autism and epilepsy
Animal models of voltage-gated sodium channel (VGSC)-related epilepsy and autism reveal insights into disease mechanisms and provide phenotypes to test precision medicines.
Human induced pluripotent stem cell - derived models are rapidly advancing to include 2D cultures, 3D organoids and assembloids, and chimeric mouse models to test therapies in human cells with human gene sequences.
Gene replacement therapies using viral vectors are promising for the treatment of VGSC haploinsufficiency in preclinical trials.
Advances in CRISPR-based platforms (base and prime editing) represent promising gene correction therapies for monogenic brain disorders.
Modalities that modulate gene and protein expression, such as antisense oligonucleotides, engineered tRNAs, CRISPRa/i, and CRISPR epigenetic regulation are evolving rapidly.
Challenges with targeted brain delivery remain one of the largest hurdles in moving forward.
https://www.cell.com/trends/molecular-medicine/fulltext/S1471-4914(25)00216-3
