Article
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
EBioMedicine - 1 Sept 2015
Leu Costin, Balestrini Simona, Maher Bridget, Hernández-Hernández Laura, Gormley Padhraig, Hämäläinen Eija, Heggeli Kristin, Schoeler Natasha, Novy Jan, Willis Joseph, Plagnol Vincent, Ellis Rachael, Reavey Eleanor, O'Regan Mary, Pickrell William O, Thomas Rhys H, Chung Seo-Kyung, Delanty Norman, McMahon Jacinta M, Malone Stephen, Sadleir Lynette G, Berkovic Samuel F, Nashef Lina, Zuberi Sameer M, Rees Mark I, Cavalleri Gianpiero L, Sander Josemir W, Hughes Elaine, Helen Cross J, Scheffer Ingrid E, Palotie Aarno, Sisodiya Sanjay M
Abstract excerpt
Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP remain elusive. Aiming to elucidate the genetic basis of SUDEP, we analysed rare, protein-changing variants from whole-exome sequences of 18 people who died of SUDEP,...
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