Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

M Koko; JE Motelow; KE Stanley; DR Bobbili; RS Dhindsa; P May; BK Alldredge; AS Allen; J Altmüller; D Amrom; E Andermann; P Auce; A Avbersek; S Baulac; JF Bautista; F Becker; ST Bellows; B Berghuis; SF Berkovic; J Bluvstein; A Boro; J Bridgers; R Burgess; H Caglayan; GD Cascino; GL Cavalleri; SK Chung; C Cieuta-Walti; V Cloutier; D Consalvo; P Cossette; P Crumrine; N Delanty; C Depondt; R Desbiens; O Devinsky; D Dlugos; MP Epstein; K Everett; M Fiol; NB Fountain; B Francis; J French; C Freyer; D Friedman; A Gambardella; EB Geller; S Girard; T Glauser; S Glynn; DB Goldstein; M Gravel; K Haas; SR Haut; EL Heinzen; I Helbig; MS Hildebrand; MR Johnson; A Jorgensen; S Joshi; A Kanner; HE Kirsch; KM Klein; RC Knowlton; BPC Koeleman; EH Kossoff; R Krause; M Krenn; WS Kunz; R Kuzniecky; SR Langley; E LeGuern; AE Lehesjoki; H Lerche; C Leu; A Lortie; DH Lowenstein; AG Marson; C Mebane; HC Mefford; C Meloche; C Moreau; PV Motika; H Muhle; RS Møller; R Nabbout; DK Nguyen; M Nikanorova; EJ Novotny; P Nürnberg; R Ottman; TJ O’Brien; JM Paolicchi; JM Parent; K Park; S Peter; S Petrou; S Petrovski; WO Pickrell; A Poduri

Journal article

Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

M Koko, JE Motelow, KE Stanley, DR Bobbili, RS Dhindsa, P May, BK Alldredge, AS Allen, J Altmüller, D Amrom, E Andermann, P Auce, A Avbersek, S Baulac, JF Bautista, F Becker, ST Bellows, B Berghuis, SF Berkovic, J Bluvstein Show all

Epilepsia | WILEY | Published : 2022

DOI: 10.1111/epi.17166

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Abstract

Objective: We aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE. Methods: We performed a case–control whole exome sequencing study in unrelated individuals of European descent diagnosed with GGE (previously recruited and sequenced through multiple international collaborations) and ancestry-matched controls. The association of ultra-rare variants (URVs; in 18 834 protein-coding genes) with epilepsy was examined in 1928 individuals with GGE (vs. 8578 controls), then separately in 94..

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University of Melbourne Researchers

Sam Berkovic Author

Michael Hildebrand Author

Slave Petrovski Author

Ingrid Scheffer 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 Genome Canada

Funding Acknowledgements

National Institutes of Health, Grant/Award Number: TL1TR001875, K01MH098126, R01MH099216, R01MH097993, R56AI098588, U01HG007672, R01AG037212 and P01AG007232; National Institute of Neurological Disorders and Stroke, Grant/Award Number: U01NS053998, U01NS077274, U01NS077303, U01NS077367 and U01NS077276; Deutscher Akademischer Austauschdienst, Grant/Award Number: 57214224; Deutsche Forschungsgemeinschaft, Grant/Award Number: Le1030/16-1, Le1030/11-1/2, Nu50/8-1, Sa434/5-1 and He5415/3-1; Epilepsy Research UK, Grant/Award Number: P1104; Foundation 'no epilep'; Sixth Framework Programme; Fonds National de la Recherche Luxembourg, Grant/Award Number: FNR11264123, INTER/DFG/17/11583046 and INTER/ESF/10/02/CoGIE; Seventh Framework Programme; Genome Canada; Genome Quebec; European Science Foundation [through grants from national funding agencies]; Academy of Finland, Grant/Award Number: 141549; Spanish Ministry of Economy and Competitiveness, Grant/Award Number: EUI-EURC-2011-4325 and SAF2010-18586; TUBITAK, Grant/Award Number: 110S518