Brain’s Neuronal Network Behind Dravet Syndrome

Essentially critical cell subtype in the brain’s neuronal network is found to contribute to chronic symptoms in the neurodevelopmental disorder —Dravet syndrome.

Critical therapeutic target for Dravet syndrome — a neurodevelopmental disorder has been discovered by scientists at the Children’s Hospital of Philadelphia (CHOP), published in the journal Cell Reports.

Dravet syndrome is a form of genetic epilepsy that is characterized by seizures that begin in the first year of life, along with differences in childhood development and features of autism spectrum disorder.

Drug can Lower Frequency of Seizures in Kids With Dravet Syndrome
14-week randomised controlled trial of 119 children aged between 2-18 years finds evidence for the benefit of fenfluramine in Dravet syndrome when given in addition to existing anti-epilepsy drugs.

‘Essentially critical cell subtype in the brain’s neuronal network is found to contribute to chronic symptoms in the neurodevelopmental disorder —Dravet syndrome.’

“Dravet syndrome affects 1 in 14,000 children in the world and has a profound impact on children and their families. We can model Dravet syndrome in the laboratory to understand precisely how the loss of SCN1A (gene essential for making protein for seizure-suppressing cells (interneurons)— parvalbumin) produces the clinical features characteristic of the disease to drive development of novel therapies, and, one day, a cure,” says Ethan Goldberg, MD, PhD, a pediatric neurologist and Director of the Epilepsy Neurogenetics Initiative (ENGIN) at CHOP and lead author of the study.

The study shows that SCN1A may be a viable therapeutic target for Dravet syndrome patients. Hence, further work in this area may help translate this research into direct human applications.

Source-Medindia

Research: Low-Dose Sedative Alleviates Autistic-like Behavior in Mice With Dravet Syndrome Mutation
A new study has found that autistic-like behavior in mice with genetic mutation that leads to Dravet syndrome in humans could be alleviated by using a low dose of clonazepam

Potential Mechanism Underlying Dravet Syndrome Identified
Researchers have reprogrammed fibroblasts, a type of skin cell, from Dravet syndrome patients and generated patient-specific neurons.

Cannabis-based Drug as Epilepsy Treatment
Cannabis-based medicine reduces seizures for children with difficult-to-treat epilepsy, revealed clinical trial results.