Phenotypic analysis of 303 multiplex families with common epilepsies

B Abou-Khalil; Z Afawi; AS Allen; JF Bautista; ST Bellows; SF Berkovic; J Bluvstein; R Burgess; G Cascino; EJ Cops; P Cossette; S Cristofaro; DE Crompton; N Delanty; O Devinsky; D Dlugos; MP Epstein; NB Fountain; C Freyer; SI Garry; EB Geller; T Glauser; S Glynn; H Goldberg-Stern; DB Goldstein; M Gravel; K Haas; S Haut; EL Heinzen; HE Kirsch; S Kivity; R Knowlton; AD Korczyn; E Kossoff; R Kuzniecky; R Loeb; DH Lowenstein; AG Marson; M McCormack; K McKenna; HC Mefford; P Motika; SA Mullen; TJ O'Brien; R Ottman; J Paolicchi; JM Parent; S Paterson; S Petrovski; WO Pickrell; A Poduri; MI Rees; LG Sadleir; IE Scheffer; J Shih; R Singh; J Sirven; M Smith; PEM Smith; LL Thio; RH Thomas; A Venkat; E Vining; G Von Allmen; J Weisenberg; P Widdess-Walsh; MR Winawer

Journal article

Phenotypic analysis of 303 multiplex families with common epilepsies

B Abou-Khalil, Z Afawi, AS Allen, JF Bautista, ST Bellows, SF Berkovic, J Bluvstein, R Burgess, G Cascino, EJ Cops, P Cossette, S Cristofaro, DE Crompton, N Delanty, O Devinsky, D Dlugos, MP Epstein, NB Fountain, C Freyer, SI Garry Show all

Brain | OXFORD UNIV PRESS | Published : 2017

DOI: 10.1093/brain/awx129

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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University of Melbourne Researchers

Sam Berkovic Author

Douglas Crompton Author

Slave Petrovski Author

Ingrid Scheffer Author

Related Projects (3)

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

5 OF 7 EPI4K: MULTIPLEX FAMILIES & PAIRS PROJECT

DESCRIPTION (provided by applicant): The primary goal of the Epi4K Center Without Walls Is to Increase understanding of the genetic basis of..

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Grants

Awarded by National Institutes of Health

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.