Ion Channel Dysregulation in Neurodevelopmental Disorders: Mechanisms, Models, and Therapeutic Advances - PubMed
5 hours ago
- #precision-medicine
- #neurodevelopmental-disorders
- #ion-channels
- Ion channels are crucial for neuronal excitability, synaptic transmission, and brain circuit development.
- Dysregulation of ion channels (channelopathies) is linked to neurodevelopmental disorders (NDDs) like epilepsy, autism, and intellectual disability.
- Key ion channel families involved include sodium, potassium, calcium, glutamate/GABA receptors, and mechanosensitive channels (e.g., TRP, Piezo).
- Pathogenic variants in these channels disrupt molecular mechanisms and circuit-level functions.
- Emerging therapies include small molecule modulators, antisense oligonucleotides, CRISPR-based genome editing, and patient-derived organoid models.
- Challenges include cellular heterogeneity, developmental timing, and translational model fidelity.
- Precision neurogenetics and integrative platforms offer potential for improved diagnosis and treatment of NDDs.