Table 1 Overview of data collected
From: GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
Dataset Name | Dataset content |
|---|---|
Patient Data | |
Personal data | Demographic information |
Residence data | |
Contact data | Who to call to share information about the patient |
Family history | Consanguinity, family history, other neuropsychiatric symptoms, or symptoms possibly related to GLUT1DS |
Consent | Consent to participation in the Register of People with GLUT1 Deficit Syndrome and Date of acquisition of the informed consent |
Diagnosis data | Date of diagnosis, genotype, inheritance |
Symptoms at onset | Age at onset and first symptoms observed |
Follow-up | |
Follow-up visits | Recording of clinical, auxological, neurological data at each follow-up |
Follow-up exams | Recording of all exams performed at each follow-up with related reports |
Therapies | |
Therapies for epileptic seizures | Recording of all pharmacological treatments carried out over time and their efficacy |
Therapies for movement disorder | |
Dietary treatments | Recording of information about ketogenic dietary treatments and their efficacy |