Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome
Cook Children's Health Care System
Summary
This study will non-invasively obtain levels of GABA in the brain of children with SCN1A+DS and neurodeveloping children through evoked and induced cortical responses, correlate them with the BOLD responses, and with the levels of GABA in their blood.
Description
Epileptic seizures may result from too much excitation or too little inhibition in the area in which abnormal discharges start. Excitation and inhibition of neurons are mediated by g-aminobutyric acid (GABA) neurotransmitter among others. Several lines of evidence indicate an abnormal pathophysiological mechanism of GABA in children with Dravet Syndrome (DS). Other studies show that measures of the beta and gamma brain activity with non-invasive electrophysiological techniques correlate with the levels of GABA in the human brain. Here, we propose to assess these measures in children with SCN1A…
Eligibility
- Age range
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: 1. Authorized representative (parent/caregiver) must be willing and able to give informed consent for the participant's participation in the study. Participants capable of providing informed assent must be willing to provide their assent. 2. Participant and their parent/caregiver are willing and able (in the PI's opinion) to comply with all study requirements. 3. Participant is male or female aged between 0 months and 18 years of age, inclusive, at the time of consent. 4. Participant has a confirmed pathogenic or likely pathogenic SCN1A mutation, as demonstrated by genetic…
Interventions
- Diagnostic TestGABA Blood Level
Blood specimens will be collected by a registered phlebotomist according to hospital's specimen collection procedures.
Location
- Cook Children's Medical CenterFort Worth, Texas