Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy (FIBMEX)

Study type

• Study type:
  Non-interventional study

Non-interventional study

• Non-interventional study design:
  Cohort

Population studied

• Age groups:
  • Infants and toddlers (28 days – 23 months)
  • Children (2 to < 12 years)
• Estimated number of subjects:
  10

Study design details

• Main study objective:
  - To determine the expression pattern of biomarkers in cerebrospinal fluid in STXBP1. - Characterize electroencephalographic patterns and determine the presence of new markers in EEG signal. - In-depth characterization of MR imaging in patients with STXBP1 mutation
• Data analysis plan:
  The study group will be compared with a cohort of patients with similar characteristics to those of the study. That is, in the case of CSF with healthy subjects of the same age and in the case of MRI, EEG with patients affected by other EEDs and with healthy controls.