Thalamic Ventral Intermediate Electrical Stimulation for Refractory Familial Cortical Myoclonus with Epilepsy

This project aims to include 5 participants, and evaluate the effectiveness and safety of Thalamic Ventral Intermediate electrical stimulation in patients with refractory familial cortical myoclonus with epilepsy through a prospective, interventional, unblinded, single-arm clinical trial. It is expected to provide new therapeutic options for patients with refractory familial cortical myoclonus with epilepsy with alternative treatment options.

Inclusion criteria

• Aged 30-70, meeting the diagnostic criteria for Refractory Familial Cortical Myoclonus with Epilepsy (FCMTE), meaning that tremors and/or seizures have not significantly improved despite long-term, stable use of current treatment medications, regardless of gender.
• Tremors and seizures severely impact the patients' work and quality of life.
• Experiencing drug resistance or intolerable adverse reactions to medication.
• After being adequately informed about the nature and risks of the study, willing to provide written informed consent before participating in any study-related procedures.
• Willing to adhere to the relevant trial protocol and regulations, including attending follow-up visits and undergoing related examinations within the specified timeframe.

Exclusion criteria

• Patients with FCMTE whose symptoms are essentially controlled after standardized medication and other treatments.
• Presence of structural abnormalities in the VIM (ventral intermediate nucleus).
• Presence of an implanted electrical stimulator (e.g., pacemaker, spinal cord stimulator, repetitive nerve stimulator) or metallic implants in the head (e.g., aneurysm clips, cochlear implants). Note: Vagus nerve stimulation (with stable parameters for at least 3 months) is not an exclusion criterion.
• IQ < 55, severe cognitive impairment that prevents participation in the study.
• Pregnant individuals or those planning to conceive within 2 years.
• Presence of progressive neurological diseases such as brain tumors, arteriovenous malformations, or cavernous hemangiomas.
• Presence of other serious neuropsychiatric disorders such as dementia, severe depression (hospitalized in a psychiatric facility within the past 5 years or any suicidal or self-harming tendencies), schizophrenia, or neurodegenerative diseases. Resolved postictal psychiatric or behavioral abnormalities are not an exclusion criterion.
• Conditions that may increase the risk of seizures during or after surgery (e.g., coagulation disorders) or require long-term oral anticoagulants or antiplatelet drugs.
• Other severe physical illnesses, psychiatric disorders, internal diseases, or severe liver or kidney dysfunction; participation in other clinical trials within the past three months.