Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ familiesResearch in context

Summary: Background: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and phenotypic expression of rare pathogenic variants in f...

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Main Authors:	Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer
Format:	Article
Language:	English
Published:	Elsevier 2024-11-01
Series:	EBioMedicine
Subjects:	Epilepsy genetics Familial epilepsies Genetic modifiers Polygenic risk GEFS+ GABRG2
Online Access:	http://www.sciencedirect.com/science/article/pii/S2352396424004407

Internet

http://www.sciencedirect.com/science/article/pii/S2352396424004407

Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ familiesResearch in context

Internet

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