Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome
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.
• 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.
• Participant and their parent/caregiver are willing and able (in the PI's opinion) to comply with all study requirements.
• Participant is male or female aged between 0 months and 18 years of age, inclusive, at the time of consent.
• Participant has a confirmed pathogenic or likely pathogenic SCN1A mutation, as demonstrated by genetic testing.
• Participant had normal development prior to onset of first seizure as defined by the Centers for Disease Control and Prevention (CDC 2019).
• Participant had an onset of seizures, defined as first focal clonic/hemiclonic, generalized/focal, generalized tonic-clonic/clonic, atonic, prolonged seizure, or status epilepticus between age 3 and 5 months, inclusive.
• Participant should have an evaluation by a pediatric neurologist with a diagnosis of DS.