New gene therapy offers hope for rare epilepsy in children

New Delhi : A team of researchers has developed a new gene therapy for children with Dravet syndrome -- a rare type of epilepsy in children.

Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. The condition is rare but devastating and causes a host of symptoms in children, including seizures, intellectual disability, and even sudden death.

A DEE causes developmental slowing or regression, while most patients have seizures that occur on a background of developmental delay. As most cases are caused by a genetic mutation; researchers from the University of Michigan focussed on the SCN1B gene -- which plays a role in regulating sodium channels in the brain and heart.

The gene causes an even more severe form of DEE. In the mice study, the team found that without the SCN1B gene, the animals experienced seizures and 100 per cent mortality just three weeks after birth. The team tested a gene therapy in mice models to replace SCN1B to increase the expression of beta-1 protein -- necessary for the regulation of sodium channels in the brain.

The therapy in newborn mice increased their survival, reduced the severity of their seizures, and restored brain neuron excitability.

“Different forms of SCN1B gene expression may result in different outcomes for the therapy. However, the proof-of-concept is the first step toward a gene replacement therapy for SCN1B-linked developmental and epileptic encephalopathy,” said the team in the paper published in the Journal of Clinical Investigation.

A recent study, detailed in the journal Neurology, showed that epilepsy and developmental impairment before the age of 16 years occurs in 1 in 340 children, with 1 in 590 having a DEE and 1 in 800 having intellectual disability and epilepsy.