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A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.
Metformin activates AMPK leading to mTORC1 inhibition, while rapamycin directly inhibits mTOR kinase. Combined treatment enhances ULK1-mediated autophagy initiation and promotes clearance of misfolded proteins accumulating from disrupted ARID1B-mediated chromatin remodeling.
Gastrodin from Gastrodia elata modulates GABAergic transmission via GABA-A receptor potentiation. Glycyrrhizin enhances glutamate decarboxylase (GAD65/67) activity while paeoniflorin inhibits excessive NMDA receptor activation through NR2B subunit modulation.
HDAC6 selective inhibitors like tubastatin A increase α-tubulin acetylation, stabilizing microtubules and enhancing axonal transport. Improved cytoskeletal dynamics facilitate proper neuronal migration and cortical lamination disrupted by ARID1B chromatin remodeling defects.
Fenofibrate activates PPARα in microglia, suppressing NF-κB-mediated transcription of pro-inflammatory cytokines IL-1β, TNF-α, and IL-6. Enhanced PPARα activity promotes anti-inflammatory M2 microglial polarization and upregulates brain-derived neurotrophic factor expression.
Bacosides A and B enhance BDNF expression and activate PI3K/Akt/mTOR pathway, promoting oligodendrocyte proliferation and myelin basic protein (MBP) synthesis. Bacopaside II modulates CREB-mediated transcription of axon guidance molecules including ROBO1 and SLIT2.
Curcumin modulates Wnt/β-catenin signaling by inhibiting GSK-3β phosphorylation, promoting neural progenitor proliferation. Piperine enhances curcumin bioavailability and additionally activates TRPV1 channels, promoting CGRP release and neurovascular coupling improvement.
Circulating ARID1B protein fragments released from degenerating neurons serve as biomarkers for disease progression. ELISA-based quantification of specific ARID1B domains (particularly the AT-rich DNA binding domain) correlates with seizure frequency and developmental milestones.