Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.

Status: Recruiting
Location: See location...
Study Type: Observational

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.

Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 50
Healthy Volunteers: No

• Adults ages 18 - 50 with a diagnosis of epilepsy or seizures, or syncope or drowning or cardiac arrest or sudden death or an abnormal ECG suggestive of an arrhythmia

• Blood-relatives (Aged 18+) of a patient with a history of epilepsy, seizure, cardiac arrest, sudden death, drowning, syncope or arrhythmia

United States
Mayo Clinic
Contact Information
Somers CPL Lab
Time Frame
Start Date: May 2016
Estimated Completion Date: December 31, 2029
Target number of participants: 600
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.
Leads: Mayo Clinic
Collaborators: American Heart Association

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