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De novo GABRG2 mutations associated with epileptic encephalopathies.
Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.
Brain. 2017.
PMID: 27864268
Free PMC article.
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au; Epi25 Collaborative.
Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, et al.
Am J Hum Genet. 2019 Aug 1;105(2):267-282. doi: 10.1016/j.ajhg.2019.05.020. Epub 2019 Jul 18.
Am J Hum Genet. 2019.
PMID: 31327507
Free PMC article.
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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.
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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.
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.
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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 Oct 7;108(10):2024. doi: 10.1016/j.ajhg.2021.08.008.
Am J Hum Genet. 2021.
PMID: 34626584
Free PMC article.
No abstract available.
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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.
Montanucci L, et al.
Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6.
Nat Commun. 2023.
PMID: 37474567
Free PMC article.
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