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Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF. Harris RV, et al. Ann Neurol. 2023 Nov;94(5):825-835. doi: 10.1002/ana.26765. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37597255 Free PMC article.
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, Gécz J, Berkovic SF. Heron SE, et al. Among authors: harris rv. Neurology. 2021 May 4;96(18):e2251-e2260. doi: 10.1212/WNL.0000000000011855. Epub 2021 Mar 23. Neurology. 2021. PMID: 34038384 Free PMC article.
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
Oliver KL, Ellis CA, Scheffer IE, Ganesan S, Leu C, Sadleir LG, Heinzen EL, Mefford HC, Bass AJ, Curtis SW, Harris RV; Epi4K Consortium; Whiteman DC, Helbig I, Ottman R, Epstein MP, Bahlo M, Berkovic SF. Oliver KL, et al. Among authors: harris rv. EBioMedicine. 2022 Jul;81:104079. doi: 10.1016/j.ebiom.2022.104079. Epub 2022 May 27. EBioMedicine. 2022. PMID: 35636315 Free PMC article.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. Among authors: harris rv. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
52 results