Epilepsy, Genetic Disease
Conditions
Brief summary
Transcranial magnetic stimulation (TMS) uses electromagnetic induction as an efficient, painless, non-invasive method to generate a suprathreshold current at the level of the encephalon, and provide in vivo measurements of cortical excitability and reactivity at the level of the motor cortex (TMS-EMG) or the entire cortical mantle (TMS-EEG). This study proposes TMS measurements as a diagnostic tool in patients to understand mechanisms of epileptogenesis related to genetic mutations, and prognostic to guide and monitor precision treatments.
Interventions
DIAGNOSTIC_TESTtranscranial magnetic stimulation (TMS)
The STM9000 Standard-BI stimulator with 70 mm refrigerated butterfly stimulator (EB Neuro, Florence, Italy) controlled by Galileo Netbrain 9000 hardware and software (EB Neuro, Florence, Italy) is used. EMG data are recorded from the contralateral dorsal first interosseous muscle using gelled surface electrodes. EEG data are recorded by using the BE PLUS PRO Advanced EEG/EMG/EP amplifier (EB Neuro, Florence, Italy IT).
Sponsors
Meyer Children's Hospital IRCCS
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to 70 Years
Healthy volunteers
No
Inclusion criteria
* Children aged \>3 years and adults * Diagnosis of epilepsy with presumed or confirmed genetic etiology. Diagnosis of genetic epilepsy is made by next-generation sequencing (NGS) analysis * or Diagnosis of primary (non-hemicranial) headache, in the absence of alterations on neuroimaging, and no known genetic condition * Obtaining informed consent
Exclusion criteria
* Age \<3 years * Presence of contraindications to TMS: history of head or eye trauma with inclusion of metal fragments, cardiac pacemaker, arrhythmic heart disease, hearing implants, implantation of drug delivery devices, piercings or tattoos with metallic ink. * Pregnancy status
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Resting motor threshold | 24 months | Resting motor threshold (%MSO) |
| SICI | 24 months | Short Interval intracortical inhibition (ratio) |
| ICF | 24 months | Intracortical facilitation (ratio) |
| LICI | 24 months | Long Interval Intracortical inhibition (ratio) |
| TEP amplitude | 24 months | Amplitude of each component of the TMS-evoked potential (mV) |
| TEP latency | 24 months | Latency of each component of the TMS-evoked potential (msec) |
Countries
Italy
Contacts
Primary ContactSimona Balestrini, MD
Backup ContactRenzo Guerrini, MD
Outcome results
None listed