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Genomic analysis of "microphenotypes" in epilepsy.
Stanley K, Hostyk J, Tran L, Amengual-Gual M, Dugan P, Clark J, Choi H, Tchapyjnikov D, Perucca P, Fernandes C, Andrade D, Devinsky O; pSERG Consortium, the EPIGEN Consortium; Cavalleri GL, Depondt C, Sen A, O'Brien T, Heinzen E, Loddenkemper T, Goldstein DB, Mikati MA, Delanty N. Stanley K, et al. Among authors: andrade d. Am J Med Genet A. 2022 Jan;188(1):138-146. doi: 10.1002/ajmg.a.62505. Epub 2021 Sep 27. Am J Med Genet A. 2022. PMID: 34569149
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. Myers CT, et al. Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942967 Free PMC article.
The phenotype of bilateral hippocampal sclerosis and its management in "real life" clinical settings.
Sen A, Dugan P, Perucca P, Costello D, Choi H, Bazil C, Radtke R, Andrade D, Depondt C, Heavin S, Adcock J, Pickrell WO, McGinty RN, Nascimento F, Smith P, Rees MI, Kwan P, O'Brien TJ, Goldstein D, Delanty N. Sen A, et al. Among authors: andrade d. Epilepsia. 2018 Jul;59(7):1410-1420. doi: 10.1111/epi.14436. Epub 2018 Jun 14. Epilepsia. 2018. PMID: 29901232
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.
Evaluating risk to people with epilepsy during the COVID-19 pandemic: Preliminary findings from the COV-E study.
Thorpe J, Ashby S, Hallab A, Ding D, Andraus M, Dugan P, Perucca P, Costello D, French JA, O'Brien TJ, Depondt C, Andrade DM, Sengupta R, Delanty N, Jette N, Newton CR, Brodie MJ, Devinsky O, Helen Cross J, Sander JW, Hanna J, Sen A; COVID-19 and Epilepsy (COV-E) Study Group. Thorpe J, et al. Among authors: andrade dm. Epilepsy Behav. 2021 Feb;115:107658. doi: 10.1016/j.yebeh.2020.107658. Epub 2020 Nov 28. Epilepsy Behav. 2021. PMID: 33341393 Free PMC article.
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. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.
1,154 results