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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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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S, Oliver KL, Regan BM, Schneider AL, Myers CT, Mehaffey MG, LaCroix AJ, Antony J, Webster R, Cardamone M, Subramanian GM, Chiu ATG, Roza E, Teleanu RI, Malone S, Leventer RJ, Gill D, Berkovic SF, Hildebrand MS, [...] Scheffer IE
Ann Neurol, 96(5):932-943, 02 Aug 2024
Cited by: 1 article | PMID: 39096015
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Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, [...] Brunklaus A
Epilepsia, 65(4):1046-1059, 27 Feb 2024
Cited by: 6 articles | PMID: 38410936
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Targeting PGLYRP1 promotes antitumor immunity while inhibiting autoimmune neuroinflammation.
Schnell A, Huang L, Regan BML, Singh V, Vonficht D, Bollhagen A, Wang M, Hou Y, Bod L, Sobel RA, Chihara N, Madi A, Anderson AC, Regev A, Kuchroo VK
Nat Immunol, 24(11):1908-1920, 12 Oct 2023
Cited by: 3 articles | PMID: 37828379
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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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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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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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Induction of a colitogenic phenotype in Th1-like cells depends on interleukin-23 receptor signaling.
Pawlak M, DeTomaso D, Schnell A, Meyer Zu Horste G, Lee Y, Nyman J, Dionne D, Regan BML, Singh V, Delorey T, Schramm MA, Wang C, Wallrapp A, Burkett PR, Riesenfeld SJ, Anderson AC, Regev A, Xavier RJ, Yosef N, Kuchroo VK
Immunity, 55(9):1663-1679.e6, 06 Sep 2022
Cited by: 14 articles | PMID: 36070768 | PMCID: PMC9808605
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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell AP, Baxter AE, Berkovic SF, Ellaway CJ, Forwood C, Hildebrand MS, Kumble S, McKeown C, Mowat D, Poke G, Rajagopalan S, Regan BM, Scheffer IE, Stark Z, Stutterd CA, Tan TY, Wilkins EJ, Yeung A, Hunter MF
Am J Med Genet A, 188(12):3432-3447, 17 Aug 2022
Cited by: 4 articles | PMID: 36367278
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Stem-like intestinal Th17 cells give rise to pathogenic effector T cells during autoimmunity.
Schnell A, Huang L, Singer M, Singaraju A, Barilla RM, Regan BML, Bollhagen A, Thakore PI, Dionne D, Delorey TM, Pawlak M, Meyer Zu Horste G, Rozenblatt-Rosen O, Irizarry RA, Regev A, Kuchroo VK
Cell, 184(26):6281-6298.e23, 06 Dec 2021
Cited by: 95 articles | PMID: 34875227 | PMCID: PMC8900676
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Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, [...] Lal D
Neurology, 98(11):e1163-e1174, 24 Jan 2022
Cited by: 16 articles | PMID: 35074891 | PMCID: PMC8935441
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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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Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Pham DH, Pitman MR, Kumar R, Jolly LA, Schulz R, Gardner AE, de Nys R, Heron SE, Corbett MA, Kothur K, Gill D, Rajagopalan S, Kolc KL, Halliday BJ, Robertson SP, Regan BM, Kirsch HE, Berkovic SF, Scheffer IE, [...] Gecz J
Hum Mutat, 42(8):1030-1041, 15 Jun 2021
Cited by: 1 article | PMID: 34082468
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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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Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, [...] Berkovic SF
Neurology, 96(18):e2251-e2260, 23 Mar 2021
Cited by: 6 articles | PMID: 34038384 | PMCID: PMC8166436
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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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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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Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M
Eur J Hum Genet, 28(7):973-978, 16 Mar 2020
Cited by: 14 articles | PMID: 32203200 | PMCID: PMC7316749
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, [...] Eichler EE
Nat Commun, 10(1):4679, 15 Oct 2019
Cited by: 24 articles | PMID: 31616000 | PMCID: PMC6794285
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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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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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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, [...] Freeze HH
Hum Mutat, 40(7):908-925, 24 Apr 2019
Cited by: 35 articles | PMID: 30817854 | PMCID: PMC6661012
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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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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J, EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, [...] Mefford HC
Am J Hum Genet, 103(6):1022-1029, 01 Dec 2018
Cited by: 55 articles | PMID: 30526861 | PMCID: PMC6288405
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1-25 of 43 results

1 2

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.

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Targeting PGLYRP1 promotes antitumor immunity while inhibiting autoimmune neuroinflammation.

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.

Induction of a colitogenic phenotype in Th1-like cells depends on interleukin-23 receptor signaling.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Stem-like intestinal Th17 cells give rise to pathogenic effector T cells during autoimmunity.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

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.

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

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

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

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

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

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Polygenic burden in focal and generalized epilepsies.

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

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

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