The role of copy number variants in the genetic architecture of common familial epilepsies

EP Almanza Fuerte; J Nguyen; M Mehaffey; A Sulovari; T Wang; M Galey; DE Miller; EE Eichler; HC Mefford; B Abou-Khalil; ZA Afawi; AS Allen; D Amrom; E Andermann; JF Bautista; ST Bellows; SF Berkovic; J Bluvstein; A Boro; R Burgess; GD Cascino; SK Chung; D Consalvo; P Cossette; DE Crompton; P Crumrine; SW Curtis; N Delanty; O Devinsky; D Dlugos; CA Ellis; MP Epstein; M Fiol; NB Fountain; C Freyer; D Friedman; EB Geller; T Glauser; S Glynn; DB Goldstein; M Gravel; K Haas; RV Harris; S Haut; EL Heinzen; S Helmers; OJ Henry; S Joshi; HE Kirsch; S Kivity; RC Knowlton; E Kossoff; R Kuzniecky; R Loeb; DH Lowenstein; AG Marson; M McCormack; SM McGuire; K McKenna; PV Motika; SA Mullen; EJ Novotny; TJ O’Brien; KL Oliver; R Ottman; JM Paolicchi; JM Parent; KL Park; SJ Paterson; S Petrovski; WO Pickrell; A Poduri; MI Rees; LG Sadleir; IE Scheffer; RA Shellhaas; EH Sherr; JJ Shih; S Shinnar; RK Singh; J Sirven; MC Smith; PEM Smith; MR Sperling; J Sullivan; LL Thio; RH Thomas; A Venkat; EPG Vining; GK Von Allmen; J Weisenberg; P Widdess-Walsh; MR Winawer

Journal article

The role of copy number variants in the genetic architecture of common familial epilepsies

EP Almanza Fuerte, J Nguyen, M Mehaffey, A Sulovari, T Wang, M Galey, DE Miller, EE Eichler, HC Mefford, B Abou-Khalil, ZA Afawi, AS Allen, D Amrom, E Andermann, JF Bautista, ST Bellows, SF Berkovic, J Bluvstein, A Boro, R Burgess Show all

Epilepsia | WILEY | Published : 2024

DOI: 10.1111/epi.17860

Abstract

Objective: Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. Whereas many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies. Methods: We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic generalized epilepsies or nonacquired focal epilepsies to predict CNVs. Validation and segregation studies were performed using an orthogonal method when possible. Results: We identified CNVs likely to contribute to epilepsy risk or etiology in the probands of 43 of 1116 (3.9%) families, includi..

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University of Melbourne Researchers

Sam Berkovic Author

Douglas Crompton Author

Rebekah Harris Author

Karen L Oliver Author

Related Projects (2)

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..

3 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes

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

Grants

Awarded by Eisai

Funding Acknowledgements

The work presented here was carried out with funding support from the NIH/NINDS Epi4K Center Without Walls (NS077367, NS077274, NS077275, NS077303). E.E.E. is an investigator for the Howard Hughes Medical Institute.