- Australian study links rare genetic mutation to severe infant epilepsy.
- Findings may lead to personalized treatments for developmental epileptic encephalopathy.
A study in Australia has found that a rare genetic mutation in the sodium ion channel can cause severely disabling developmental and epileptic encephalopathy (DEE) in infants.
DEE is a devastating condition that can start soon after birth, leading to severe disability or death.
According to the World Health Organization (WHO), Epilepsy is a long-term brain condition that affects about 50 million people globally. It causes repeated seizures, which are short episodes of uncontrollable movement.
These seizures can affect part of the body (partial) or the whole body (generalized). Sometimes, they can also cause a person to lose consciousness and control over their bladder or bowels.
Dr Géza Berecki, a biophysicist and the lead researcher explained that in brain cells, proteins called 'sodium channels' work like ‘self-closing gate’ that briefly open and then shut automatically to prevent sodium ions from continuously flowing into neurons.
The team's research, published in the journal Brain, is the first to show that disrupting the normal function of sodium channels leads to continuous sodium ion flow into neurons, which causes seizures.
Their study has discovered that in certain forms of developmental and epileptic encephalopathies (DEEs), caused by mutations in the gene encoding the neuronal sodium channel Nav1.2, the gate remains open, allowing ions to flow continuously, which leads to seizures.
The mutation in the SCN2A gene causes DEE by disrupting the fast inactivation of the Nav1.2 channel. This disruption prevents the brain from shutting down neuronal signals, leading to increased brain excitability. As gene sequencing becomes more widespread, the number of distinct SCN2A mutations continues to grow.
Dr. Berecki highlighted the significance of these insights not only for advancing fundamental science but also for their promising therapeutic implications. According to Dr. Berecki, drugs that can modify the Nav1.2 inactivation mechanism may lead to more effective personalized treatment strategies for affected individuals.
Edited by Harshajit Sarmah
