Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies

Use of Transcranial Magnetic Stimulation (TMS) as a Surrogate of Pathophysiology in Genetic Epilepsies

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.

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