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Search life-sciences literature (45,104,145 articles, preprints and more)

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Epi25 Collaborative
Nat Neurosci, 27(10):1864-1879, 03 Oct 2024
Cited by: 0 articles | PMID: 39363051
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Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, [...] Cavalleri GL
Front Neurosci, 17:1156362, 08 Sep 2023
Cited by: 0 articles | PMID: 37790589 | PMCID: PMC10542409
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
International League Against Epilepsy Consortium on Complex Epilepsies
Nat Genet, 55(9):1471-1482, 31 Aug 2023
Cited by: 32 articles | PMID: 37653029 | PMCID: PMC10484785
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M, Epi25 Collaborative, Helbig I, Leu C, Lal D
Nat Commun, 14(1):4392, 20 Jul 2023
Cited by: 8 articles | PMID: 37474567 | PMCID: PMC10359300
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Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P, Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium
Epilepsia, 63(3):723-735, 15 Jan 2022
Cited by: 3 articles | PMID: 35032048 | PMCID: PMC8891088
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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
EBioMedicine, 72:103588, 24 Sep 2021
Cited by: 8 articles | PMID: 34571366 | PMCID: PMC8479647
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Epi25 Collaborative. Electronic address: [email protected], Epi25 Collaborative
Am J Hum Genet, 108(10):2024, 01 Oct 2021
Cited by: 0 articles | PMID: 34626584 | PMCID: PMC8546036
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Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative
Epilepsia, 62(7):1518-1527, 18 May 2021
Cited by: 3 articles | PMID: 34002374 | PMCID: PMC8672363
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Epi25 Collaborative. Electronic address: [email protected], Epi25 Collaborative
Am J Hum Genet, 108(6):965-982, 30 Apr 2021
Cited by: 22 articles | PMID: 33932343 | PMCID: PMC8206159
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Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.
Wolking S, Schulz H, Nies AT, McCormack M, Schaeffeler E, Auce P, Avbersek A, Becker F, Klein KM, Krenn M, Møller RS, Nikanorova M, Weckhuysen S, Consortium E, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BP, [...] Lerche H
Pharmacogenomics, 21(5):325-335, 20 Apr 2020
Cited by: 10 articles | PMID: 32308125
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Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH, Project MinE ALS GWAS Consortium, International League Against Epilepsy Consortium on Complex Epilepsies
Neurobiol Aging, 92:153.e1-153.e5, 18 Apr 2020
Cited by: 2 articles | PMID: 32409253 | PMCID: PMC7818383
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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D, Epi25 Collaborative
Brain, 143(7):2106-2118, 01 Jul 2020
Cited by: 35 articles | PMID: 32568404 | PMCID: PMC7364765
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Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, [...] Lal D
Brain, 142(11):3473-3481, 01 Nov 2019
Cited by: 47 articles | PMID: 31608925 | PMCID: PMC6821205
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Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.
Stevelink R, Pangilinan F, Jansen FE, Braun KPJ, International League Against Epilepsy Consortium on Complex Epilepsies, Molloy AM, Brody LC, Koeleman BPC
Mol Genet Metab Rep, 21:100518, 11 Oct 2019
Cited by: 2 articles | PMID: 31641590 | PMCID: PMC6796782
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Testing association of rare genetic variants with resistance to three common antiseizure medications.
Wolking S, Moreau C, Nies AT, Schaeffeler E, McCormack M, Auce P, Avbersek A, Becker F, Krenn M, Møller RS, Nikanorova M, Weber YG, Weckhuysen S, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Kunz WS, [...] EpiPGX Consortium
Epilepsia, 61(4):657-666, 06 Mar 2020
Cited by: 13 articles | PMID: 32141622
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Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy.
Silvennoinen K, de Lange N, Zagaglia S, Balestrini S, Androsova G, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Johnson MR, Koeleman BPC, [...] EpiPGX Consortium
Epilepsia Open, 4(3):420-430, 04 Jul 2019
Cited by: 15 articles | PMID: 31440723 | PMCID: PMC6698679
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Genomic and clinical predictors of lacosamide response in refractory epilepsies.
Heavin SB, McCormack M, Wolking S, Slattery L, Walley N, Avbersek A, Novy J, Sinha SR, Radtke R, Doherty C, Auce P, Craig J, Johnson MR, Koeleman BPC, Krause R, Kunz WS, Marson AG, O'Brien TJ, Sander JW, [...] Delanty N
Epilepsia Open, 4(4):563-571, 25 Sep 2019
Cited by: 5 articles | PMID: 31819912 | PMCID: PMC6885661
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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Lerche H, Berkovic SF, Lowenstein DH, EuroEPINOMICS-CoGIE Consortium, EpiPGX Consortium, Epi4K Consortium/Epilepsy Phenome/Genome Project
N Engl J Med, 380(16):e24, 01 Apr 2019
Cited by: 1 article | PMID: 30995385
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A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.
Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R, EpiPGX Consortium, Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, Marson AG, Stefansson H, O'Brien TJ, Johnson MR, [...] McCormack M
Epilepsia Open, 4(1):102-109, 17 Jan 2019
Cited by: 8 articles | PMID: 30868120 | PMCID: PMC6398103
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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
International League Against Epilepsy Consortium on Complex Epilepsies
Nat Commun, 9(1):5269, 10 Dec 2018
Cited by: 191 articles | PMID: 30531953 | PMCID: PMC6288131
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
Epi25 Collaborative. Electronic address: [email protected], Epi25 Collaborative
Am J Hum Genet, 105(2):267-282, 18 Jul 2019
Cited by: 120 articles | PMID: 31327507 | PMCID: PMC6698801
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Epi25 Collaborative, Feng YA, Howrigan DP, Abbott LE, Tashman K, Cerrato F, Singh T, Heyne H, Byrnes A, Churchhouse C, Lal D, Heinzen EL, Cavalleri GL, Hakonarson H, Helbig I, Krause R, May P, Weckhuysen S, Petrovski S, [...] G SB
bioRxiv, 21 Jan 2019
Cited by: 0 articles | PPR: PPR67845
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Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Koeleman BPC, Kunz WS, Lerche H, Marson AG, [...] EpiPGX Consortium
Epilepsia, 58(10):1734-1741, 31 Aug 2017
Cited by: 14 articles | PMID: 28857179
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Rare coding variants in genes encoding GABA_A receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, [...] EpiPGX Consortium
Lancet Neurol, 17(8):699-708, 17 Jul 2018
Cited by: 39 articles | PMID: 30033060
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Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N, EPIGEN Consortium;, Pirmohamed M, Carleton BC, Canadian Pharmacogenomics Network for Drug Safety;, Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM, EpiPGX Consortium;, Cherny S, Kwan P, Baum L, International League Against Epilepsy Consortium on Complex Epilepsies;, Cavalleri GL
Neurology, 90(4):e332-e341, 29 Dec 2017
Cited by: 17 articles | PMID: 29288229 | PMCID: PMC5798660
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1-25 of 30 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

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

Distinct gene-set burden patterns underlie common generalized and focal epilepsies.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Polygenic burden in focal and generalized epilepsies.

Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.

Testing association of rare genetic variants with resistance to three common antiseizure medications.

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy.

Genomic and clinical predictors of lacosamide response in refractory epilepsies.

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Rare coding variants in genes encoding GABA_A receptors in genetic generalised epilepsies: an exome-based case-control study.

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

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