Use of Transcranial Magnetic Stimulation (TMS) as a Surrogate of Pathophysiology in Genetic Epilepsies
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Epilepsy
- Sponsor
- Meyer Children's Hospital IRCCS
- Enrollment
- 150
- Locations
- 1
- Primary Endpoint
- TEP amplitude
- Status
- Recruiting
- Last Updated
- 2 years ago
Overview
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.
Investigators
Simona Balestrini
Principal Investigator
Meyer Children's Hospital IRCCS
Eligibility Criteria
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
Outcomes
Primary Outcomes
TEP amplitude
Time Frame: 24 months
Amplitude of each component of the TMS-evoked potential (mV)
ICF
Time Frame: 24 months
Intracortical facilitation (ratio)
TEP latency
Time Frame: 24 months
Latency of each component of the TMS-evoked potential (msec)
Resting motor threshold
Time Frame: 24 months
Resting motor threshold (%MSO)
SICI
Time Frame: 24 months
Short Interval intracortical inhibition (ratio)
LICI
Time Frame: 24 months
Long Interval Intracortical inhibition (ratio)