Genetics and Arrhythmias: Beyond Mendel's Peas-Panelist (Presenter: Martin Tristani-Firouzi, MD) (PDF)

Pdf Summary

Sudden unexpected death in epilepsy (SUDEP) is a common cause of death in individuals with intractable seizure disorders, such as early infantile epileptic encephalopathy (EIEE) and Dravet Syndrome. It is also the leading cause of epilepsy-related mortality. The exact cause of SUDEP is still unknown, but it is believed to be associated with both cardiac channelopathies and genetic mutations related to seizure disorders. Some individuals with long QT syndrome (LQTS) also have epilepsy. The main risk factor for SUDEP is frequent seizures, particularly generalized tonic-clonic seizures. The prevention of SUDEP involves seizure control through medications or surgery, as well as seizure alarms and nighttime supervision. The pathophysiology of SUDEP is not fully understood, but studies have shown that post-seizure, there are marked reductions in heart rate and respiratory rate, leading to terminal apnea and asystole. Animal studies have also shown that mutant mice with SCN8A gene mutations display seizures, arrhythmias, bradycardia, and asystole. In a Utah study, patients with intractable seizure disorders underwent ILR implantation for prospective cardiac surveillance, and no arrhythmias were detected. SUDEP is a rare occurrence, with approximately one child with epilepsy out of 4,500 and one adult with epilepsy out of 1,000 experiencing it per year. Seizure control remains the only known prevention for SUDEP.

Meta Tag

Lecture ID 15246

Location Room 203

Presenter Martin Tristani-Firouzi, MD

Role Invited Speaker

Session Date and Time May 09, 2019 10:30 AM - 12:00 PM

Session Number S-013

Keywords

SUDEP

intractable seizure disorders

EIEE

Dravet Syndrome

epilepsy-related mortality

seizure control

cardiac channelopathies

genetic mutations

long QT syndrome

ILR implantation