Journal article

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors

Colin A Ellis, Ruth Ottman, Michael P Epstein, Samuel F Berkovic

EPILEPSIA | WILEY | Published : 2020

Abstract

Objective To determine the roles of shared and distinct genetic influences on generalized and focal epilepsy operating in individuals who manifest features of both types (combined epilepsies), and in families manifesting both generalized and focal epilepsies in separate individuals (mixed families). Methods We analyzed the deeply phenotyped Epi4K cohort of multiplex families (≥3 affected individuals per family) using methods that quantify the aggregation of phenotypes within families and the relatedness of individuals with different phenotypes within family pedigrees. Results The cohort included 281 families containing 1021 individuals with generalized (n = 484), focal (304), combined (51)..

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Grants

Awarded by National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health (NIH)


Awarded by National Health and Medical Research Council (NHMRC)


Awarded by NIH


Awarded by Ruth L. Kirschstein National Research Service Award Institutional Research Training Grant


Funding Acknowledgements

We thank the families for participating in this study. We thank Ingo Helbig for his input during preparation of the manuscript. The Epi4K family study was supported by a National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health (NIH) grant (ID: U01NS077367). SFB was supported by a National Health and Medical Research Council (NHMRC) Program Grant (ID: 628952). RO was supported by NIH grants R01 NS104076 and P50 HG007257. MPE was supported by NIH grant R01 GM117946. CAE was supported by a Ruth L. Kirschstein National Research Service Award Institutional Research Training Grant, T32 NS091008, and by the Thomas B. and Jeannette E. Laws McCabe Fund at the University of Pennsylvania.