Journal article

Phenotypic analysis of 303 multiplex families with common epilepsies

Bassel Abou-Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Elisa J Cops, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Sarah I Garry Show all

BRAIN | OXFORD UNIV PRESS | Published : 2017

Abstract

Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses. Families with three or more individuals ..

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Awarded by NINDS National Institute of Health


Awarded by NHMRC Program


Awarded by NIH


Awarded by HRC grant


Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

This project was supported by an NINDS National Institute of Health grant (ID: U01NS077367). S.F.B., I.E.S., S.T.B., R.B., S.I.G., E.J.C. were supported by an NHMRC Program Grant (ID: 628952). R.O. was supported by NIH grants R01 NS078419 and P50 HG007257. M.P.E. was supported by NIH grant R01 GM117946. M.I.R., W.O.P., R.H.T. and P.E.M. were supported by the National Institute of Social Care and Health Research, Epilepsy Research UK and the Waterloo Foundation. L.G.S., S.Pa. were supported by an HRC grant (10/402) and Curekids.