Noninvasive Study of Brain GABA Levels in Children With SCN1A Dravet Syndrome and Healthy Controls

What this Trial Is About

Researchers are investigating the levels of GABA, a neurotransmitter involved in neuron excitation and inhibition, in children with SCN1A-positive Dravet Syndrome DS and neurodeveloping children. The study focuses on understanding abnormal GABA mechanisms in DS by comparing brain activity and blood GABA levels. This research aims to develop noninvasive biomarkers to monitor brain GABA levels, which may help guide future treatments targeting GABA regulation in children with DS. The study involves measuring GABA levels in the brain and blood using noninvasive techniques. Blood samples will be collected by a trained phlebotomist following hospital procedures. Brain activity will be recorded through various methods including BOLD MRI, MEG, HD-EEG, and TMS to assess cortical responses related to GABA. Participants include children with SCN1A DS and age-matched healthy controls. Participants will undergo blood collection and multiple brain imaging and electrophysiological assessments lasting from 30 minutes up to 3 hours depending on the test. The study evaluates correlations between blood GABA levels, brain activity patterns, and MRI responses. Researchers will monitor these outcomes to better understand GABA metabolism in DS. The study is designed for children up to 18 years old and involves no treatment intervention, focusing on observation and diagnostic testing.

GABA Biomarkers in Dravet Syndrome