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1
von Ludovica Montanucci ; David Lewis-Smith ; Ryan L. Collins ; et al.
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Schlagworte: Science
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von Leu,Costin ; Avbersek,Andreja ; Stevelink, Remi ; et al.
Schlagworte: Antiseizure medication; Association; Genetics; Pharmacogenomics; Treatment; General Biochemistry,Genetics and Molecular Biology; Journal Article
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von Leu, Costin ; Berkovic, Samuel F. ; The Epi25 Collaborative, Study group ; et al.
eBioMedicine. - 115 (2025) , 105675, ISSN: 2352-3964
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von Costin Leu ; Gianpiero Cavalleri ; Norman Delanty ; et al.
Schlagworte: Genetics; Central nervous system; Neurology and neuromuscular diseases; Clinical pharmacology and therapeutics; Antiseizure medication; Association; Pharmacogenomics; Treatment; neurological disorders; drug resistance; epilepsy; underlying genetic factors; genome-wide association study (GWAS); European ancestry; drug-responsive epilepsy; transcriptome-wide association studies (TWAS); focal epilepsy; personalised treatment approaches; common genetic variation
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von Erfanian Omidvar, Maryam ; Lerche, Holger ; May, Patrick ; et al.
Brain. - 149, 2 (2026) , e16-e18, ISSN: 1460-2156
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von Epi25 Collaborative ; Columbia University Institute for Genomic Medicine analysis group ; Epi25 sequencing ; et al.
Schlagworte: Biomedicine; Genetics; developmental biology; physiology
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von Epi25 Collaborative ; Chen, Siwei ; Arslan, Mutluay ; et al.
48 Seiten (2024). doi:10.1101/2023.02.22.23286310
Schlagworte: DE
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von Montanucci, Ludovica ; Lewis-Smith, David ; Talkowski, Michael ; et al.
Nature Communications 14, 4392 (2023). doi:10.1038/s41467-023-39539-6
Schlagworte: DE
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von Campbell, Ciarán ; Leu, Costin ; Feng, Yen-Chen Anne ; et al.
EBioMedicine , 81 , Article 104098. (2022)
Schlagworte: DEEs; Epilepsy; Genetic diagnostics; PRS
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Schlagworte: Burden analysi; Epilepsy; Exome sequencing; Gene-set; Ultra-rare variant; Case-Control Studie; Epilepsies; Partial; Generalized; Exome; Female; Genetic Predisposition to Disease; Genetic Variation; Genome-Wide Association Study; Human; Male; Whole Exome Sequencing
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von Erfanian Omidvar, Maryam ; Murrell, Jill R ; Prentice, Anna J ; et al.
Department of Pediatrics
Schlagworte: Department of Pediatrics; Medicine and Health Sciences; Pediatrics
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von International League Against Epilepsy Consortium on Complex Epilepsies ; Epi25 Collaborative ; Genetica ; et al.
Schlagworte: beta power; EEG; generalized epilepsy; GGE; oscillations; PRS; Neurology; Clinical Neurology
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von Epi25 Collaborative ; Genomic Psychiat Cohort GPC Consor ; Feng, Yen-Chen Anne ; et al.
Schlagworte: DE-NOVO MUTATIONS; EPILEPTIC SEIZURES; COMMON EPILEPSIES; VARIANTS; PROTEIN; METAANALYSIS; GENOME; GAMMA-2-SUBUNIT; SUSCEPTIBILITY; EPIDEMIOLOGY; Biomedicine; Genetics; developmental biology; physiology
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
von Baum, LW ; Sham, PC ; Epi25 Collaborative
Schlagworte: epilepsy; seizures; epileptic encephalopathy; exome; sequencing
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von Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au ; Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au ; Epi25 Collaborative ; et al.
American journal of human genetics; vol 105, iss 2, 267-282; 0002-9297
Schlagworte: Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au; Epi25 Collaborative; Humans; Epilepsy; Genetic Predisposition to Disease; Genetic Markers; Case-Control Studies; DNA Mutational Analysis; Phenotype; Genetic Variation; Exome; Exome Sequencing; burden analysis; epilepsy; epileptic encephalopathy; exome; seizures; sequencing; Clinical Research; Human Genome; Neurosciences; Biotechnology; Genetics; Neurodegenerative; Brain Disorders; 2.1 Biological and endogenous factors; Aetiology; Neurological; Biological Sciences; Medical and Health Sciences; Genetics & Heredity; article
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von The Epi25 Collaborative, Study group ; Schulze-Bonhage, Andreas ; Schubert-Bast, Susanne ; et al.
The American journal of human genetics. - 108, 6 (2021) , 965-982, ISSN: 1537-6605
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Epi25, Collaborative (2021). Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. American journal of human genetics, 108(6), pp. 965-982. Cell Press 10.1016/j.ajhg.2021.04.009
Schlagworte: 610 Medicine & health
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von Stevelink, Remi ; Luykx, Jurjen J. ; Lin, Bochao D. ; et al.
Schlagworte: beta power; EEG; generalized epilepsy; GGE; oscillations; PRS; info:eu-repo/semantics/article
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25
von Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center] ; DFG Research Unit FOR-2715 (Germany), FNR (Luxembourg), NHGRI (US), NHLBI (US), DAAD (Germany). [sponsor] ; Koko, Mahmoud ; et al.
Schlagworte: Burden analysis; Ultra-rare variants; Gene-sets; epilepsy; Exome sequencing; info:eu-repo/semantics/article
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