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Year Number of Results
2019 2
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2026 1

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17 results

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Page 1
Genome-wide association meta-analyses of drug-resistant epilepsy.
Leu C, Avbersek A, Stevelink R, Custodio HM, Chen S, Speed D, Bennett CA, Jonsson L, Unnsteinsdóttir U, Jorgensen AL, Cavalleri GL, Delanty N, Craig JJ, Depondt C, Johnson MR, Koeleman BPC, Hassanin E, Omidvar ME, Krause R, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, Stefansson H, Stefansson K, May P, Neale BM, Lal D, Berkovic SF; Epi25 Collaborative; EpiPGX Consortium; Sisodiya SM. Leu C, et al. EBioMedicine. 2025 May;115:105675. doi: 10.1016/j.ebiom.2025.105675. Epub 2025 Apr 15. EBioMedicine. 2025. PMID: 40240269 Free PMC article.
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.
Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.6410-15; Cleveland: P = 2.8510-4; Finni …
Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with gen …
USP25 in genetic generalized epilepsy: a gene under scrutiny.
Erfanian Omidvar M, Murrell JR, Prentice AJ, Helbig I, Lerche H, May P; Epi25 Collaborative. Erfanian Omidvar M, et al. Brain. 2026 Feb 7;149(2):e16-e18. doi: 10.1093/brain/awaf406. Brain. 2026. PMID: 41144622 No abstract available.
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu; Epi25 Collaborative. Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, et al. Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30. Am J Hum Genet. 2021. PMID: 33932343 Free PMC article.
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected …
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is u …
Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
Koko M, Krause R, Sander T, Bobbili DR, Nothnagel M, May P, Lerche H; Epi25 Collaborative. Koko M, et al. EBioMedicine. 2021 Oct;72:103588. doi: 10.1016/j.ebiom.2021.103588. Epub 2021 Sep 24. EBioMedicine. 2021. PMID: 34571366 Free PMC article.
METHODS: The burden of 12 URV types in 92 gene-sets was compared between cases and controls using whole exome sequencing data from individuals of European descent with developmental and epileptic encephalopathies (DEE, n = 1,003), genetic generalized epilepsy (GGE, n = 3,064), or …
METHODS: The burden of 12 URV types in 92 gene-sets was compared between cases and controls using whole exome sequencing data from individua …
Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage study.
Fonferko-Shadrach B, Lacey AS, Strafford H, Jones C, Baker M, Powell R, Akbari A, Lyons RA, Ford D, Thompson S, Jones KH, Chung SK, Pickrell WO, Rees MI. Fonferko-Shadrach B, et al. Epilepsia. 2023 Nov;64(11):3099-3108. doi: 10.1111/epi.17766. Epub 2023 Sep 15. Epilepsia. 2023. PMID: 37643892
DNA sequencing was carried out as part of the Epi25 collaboration. For each individual, we calculated the total number and cumulative burden of rare and predicted deleterious genetic variants and the total of rare and deleterious variants in epilepsy and drug metabo …
DNA sequencing was carried out as part of the Epi25 collaboration. For each individual, we calculated the total number and cum …
The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy.
Yazbeck H, Youssef J, Nasreddine W, El Kurdi A, Zgheib N, Beydoun A. Yazbeck H, et al. Front Pharmacol. 2024 Oct 30;15:1483723. doi: 10.3389/fphar.2024.1483723. eCollection 2024. Front Pharmacol. 2024. PMID: 39539630 Free PMC article.
Whole exome sequencing was performed in collaboration with Epi25. Gene variants associated with VPA efficacy, metabolism and toxicities were retrieved from PharmGKB. ...
Whole exome sequencing was performed in collaboration with Epi25. Gene variants associated with VPA efficacy, metabolism and t …
17 results