Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| American Heart Association | OTHER |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Epilepsy is a common condition which affects over 3 million people in the US. Patients with uncontrolled epilepsy have a lifetime risk of sudden unexpected death (SUDEP) of 35%, which is greatest in those under 40 years of age. The exact mechanisms and causes are not understood but can be due to underlying conditions which affect the heart and brain, which may lead to dangerous heart rhythms and death. Some of these conditions which affect heart and brain have an identifiable genetic cause. This study aims to identify known genetic causes of heart rhythm and sudden death related disorders in patients with epilepsy.
The overall goals are to determine whether patients with epilepsy who have the highest risk of SUDEP have an underlying genetic cardiovascular disorder. The investigators are seeking patients with epilepsy who have a high risk of SUDEP identified by using a risk scoring tool called SUDEP-7 and/or have blood-relatives with a history of epilepsy, seizure, cardiac arrest, sudden death, drowning/near-drowning, syncope or heart rhythm disorder. The investigators may also include blood-relatives of patients with epilepsy and invite them to participate by providing a blood sample and/or buccal cells (from a swab or saliva) for genetic testing.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| High SUDEP risk cohort | Patients with epilepsy who have a high SUDEP-7 risk score and/or a blood-relative with epilepsy, seizure, cardiac arrest, sudden death, drowning/near-drowning, syncope or arrhythmia. | ||
| Low SUDEP risk cohort | Patients with epilepsy and a low SUDEP-7 score. |
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Using Next Generation Whole-Exome Sequencing, determine if an underlying genetic cardiac mutation is present in refractory epilepsy patients who are at highest risk of sudden death. | SUDEP-7 is a risk profiling tool, with a score ranging from 0-12. Generally, a score greater than or equal to 3 is considered high risk. The investigators will select participants with a family history of epilepsy, seizures, cardiac arrest, sudden death, drowning, syncope or arrhythmia, as this markedly increases genetic yield. Next Generation Whole-Exome Sequencing will be performed with a focus on known genes implicated in sudden unexpected death syndromes (channelopathies, cardiomyopathies and aortopathies) and autonomic control. Where relevant, blood-relatives may be invited for genomic 'trio' analyses. | 3-5 years |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Men and women diagnosed with epilepsy or seizures or unexplained syncope and blood relatives.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Somers CPL Lab | Contact | CPL@mayo.edu |
| Name | Affiliation | Role |
|---|---|---|
| Virend K. Somers, MD PhD | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic | Recruiting | Rochester | Minnesota | 55905 | United States |
Not provided
| ID | Term |
|---|---|
| D004827 | Epilepsy |
| D012640 | Seizures |
| D013575 | Syncope |
| D053447 | Channelopathies |
| D009202 | Cardiomyopathies |
| D000080485 | Sudden Unexpected Death in Epilepsy |
| D016757 | Death, Sudden, Cardiac |
| D008133 | Long QT Syndrome |
| D000098850 | Polymorphic Catecholaminergic Ventricular Tachycardia |
| ID | Term |
|---|---|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D009461 | Neurologic Manifestations |
Not provided
Not provided
Not provided
Not provided
Not provided
50 mls of blood from a vein will be drawn at Mayo Clinic or another medical center and returned through the mail. Buccal swabs will be collected using a swab and saliva based-kit.
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D014474 | Unconsciousness |
| D003244 | Consciousness Disorders |
| D019954 | Neurobehavioral Manifestations |
| D010335 | Pathologic Processes |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D003645 | Death, Sudden |
| D003643 | Death |
| D006323 | Heart Arrest |
| D001145 | Arrhythmias, Cardiac |
| D000075224 | Cardiac Conduction System Disease |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D017180 | Tachycardia, Ventricular |
| D013610 | Tachycardia |