Researchers have identified a genetic mutation that opens a molecular “gate,” leading to severe childhood epilepsy.
- Florey researchers discovered a rare genetic mutation causing severe childhood epilepsy by breaking a molecular "gate" in sodium channels.
- The mutation in the SCN2A gene encoding the neuronal sodium Nav1.2 channel results in continuous sodium ion flow into neurons, leading to seizures.
- The mutation disrupts the fast inactivation process of the Nav1.2 channel, increasing brain excitability and impairing neuronal signal shut down.
- The research conducted by The Florey’s Ion Channels and Human Diseases Group deepens understanding of ion channel diseases and identifies potential therapeutic implications.
- Discoveries could lead to more effective personalized treatment strategies for affected individuals by targeting the Nav1.2 inactivation mechanism.
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Neurology,Pediatrics,Research