NEURO-CARDIAC GENETIC BASIS OF SUDDEN UNEXPECTED DEATH IN EPILEPSY
Grant number: 1046441 | Funding period: 2013 - 2015
Sudden unexpected death in epilepsy (SUDEP) is the most common epilepsy-related cause of death and accounts for up to 18% of all deaths. SUDEP is characterised by a sudden and unexpected death, where the post-mortem is normal. The underlying cause of SUDEP remains unknown. This study seeks to investigate the genetic causes of SUDEP. Identification of the causes of SUDEP has important implications for our understanding of disease mechanisms, and in translating these discoveries into both diagnostic and prevention strategies in at-risk families.
Related publications (3)
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
Richard D Bagnall, Douglas E Crompton, Slave Petrovski, Lien Lam, Carina Cutmore, Sarah I Garry, Lynette G Sadleir, Leanne M Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M Regan, Johan Duflou, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian
OBJECTIVE: The leading cause of epilepsy-related premature mortality is sudden unexpected death in epilepsy (SUDEP). The cause of ..
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases
Richard D Bagnall, Douglas E Crompton, Carina Cutmore, Brigid M Regan, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian
OBJECTIVE: To determine the contribution of sequence variations in PHOX2B to sudden unexpected death in epilepsy (SUDEP). METHODS:..