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Dravet syndrome is an inherited form of epilepsy characterized by onset of seizures in the first year of life, with developmental differences in children and features of autism spectrum disorders
"Dravet syndrome affects 1 in 14,000 children in the world and has a profound impact on children and their families," said Ethan, MD, pediatric neurologist, director of the CHOP Epilepsy Neurogenetics Initiative (ENGIN), and lead author of the study Goldberg said
Previous work in Goldberg's lab showed that in a preclinical experimental model of Dravet syndrome, the abnormal electrical activity of these parvalbumin neurons was only transient, and the neurons returned to normal activity during the chronic phase of the disease
In this study, the researchers developed a method to assess parvalbumin interneuron function at two different time points
While more work is needed to translate this study into direct human applications, the researchers note that SCN1A may be a viable therapeutic target for patients with Dravet syndrome, especially if there is a way to increase its presence in axons expression to overcome impaired signaling and synaptic transmission
"One prediction of our work is that the success of treatments being developed may depend on the ability to increase parvalbumin Nav1.
Journal Reference :
Kaneko et al.
