iNDICA NEWS BUREAU-
A team of researchers has developed a ground-breaking gene therapy aimed at treating Dravet syndrome (DS), a rare and severe form of epilepsy in children.
Dravet syndrome is a developmental and epileptic encephalopathy (DEE) that typically begins within the first year of life. The condition causes a range of debilitating symptoms, including frequent seizures, intellectual disability, and, in some cases, sudden death.
Most cases of DS are linked to a genetic mutation, and researchers at the University of Michigan focused on a specific gene called SCN1B, which plays a critical role in regulating sodium channels in the brain and heart. Mutations in this gene lead to a more severe form of DEE.
In their study using mice models, the researchers found that when the SCN1B gene was absent, the mice experienced seizures and had a 100% mortality rate within just three weeks of birth. The team then tested a gene therapy designed to replace the missing SCN1B gene and increase the production of beta-1 protein, which is essential for proper sodium channel regulation in the brain.
The results were promising: newborn mice treated with the gene therapy had significantly improved survival rates, fewer and less severe seizures, and restored brain neuron excitability.
While the research is still in its early stages, the findings represent an important proof-of-concept for a potential gene replacement therapy for SCN1B-linked DEE. The study, published in the Journal of Clinical Investigation, could pave the way for future treatments that may offer hope to children suffering from this devastating disorder.
A separate study published in Neurology highlights the prevalence of epilepsy and developmental impairments in children, showing that 1 in 340 children experience epilepsy or developmental impairment before age 16. Of these, 1 in 590 have a DEE, and 1 in 800 suffer from both intellectual disability and epilepsy.
This new gene therapy offers a glimmer of hope for families affected by Dravet syndrome and other similar conditions, marking a major step forward in genetic research and treatment for rare childhood epilepsy disorders.
(Photo courtesy: IANS)
