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Current practice in diagnostic genetic testing of the epilepsies.
Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, Hildebrand MS, Lerche H, Lowenstein D, Møller RS, Poduri A, Sadleir L, Sisodiya SM, Weckhuysen S, Wilmshurst JM, Weber Y, Lemke JR, Berkovic SF, Cross JH, Helbig I, Lerche H, Lowenstein D, Mefford HC, Perucca P, Tan NC, Caglayan H, Helbig K, Singh G, Weber Y, Weckhuysen S. Krey I, et al. Among authors: perucca p. Epileptic Disord. 2022 Oct 1;24(5):765-786. doi: 10.1684/epd.2022.1448. Epileptic Disord. 2022. PMID: 35830287 Free PMC article.
Familial mesial temporal lobe epilepsy and the borderland of déjà vu.
Perucca P, Crompton DE, Bellows ST, McIntosh AM, Kalincik T, Newton MR, Vajda FJE, Scheffer IE, Kwan P, O'Brien TJ, Tan KM, Berkovic SF. Perucca P, et al. Ann Neurol. 2017 Aug;82(2):166-176. doi: 10.1002/ana.24984. Epub 2017 Jul 19. Ann Neurol. 2017. PMID: 28681459
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.
Perucca P, Anderson A, Jazayeri D, Hitchcock A, Graham J, Todaro M, Tomson T, Battino D, Perucca E, Ferri MM, Rochtus A, Lagae L, Canevini MP, Zambrelli E, Campbell E, Koeleman BPC, Scheffer IE, Berkovic SF, Kwan P, Sisodiya SM, Goldstein DB, Petrovski S, Craig J, Vajda FJE, O'Brien TJ; EpiPGX and EPIGEN Consortia. Perucca P, et al. Among authors: perucca e. Ann Neurol. 2020 Jun;87(6):897-906. doi: 10.1002/ana.25724. Epub 2020 Apr 15. Ann Neurol. 2020. PMID: 32215971
The Genetics of Epilepsy.
Perucca P, Bahlo M, Berkovic SF. Perucca P, et al. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:205-230. doi: 10.1146/annurev-genom-120219-074937. Epub 2020 Apr 27. Annu Rev Genomics Hum Genet. 2020. PMID: 32339036 Review.
Climate change and epilepsy: Insights from clinical and basic science studies.
Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A; Epilepsy Climate Change Consortium; Sisodiya SM. Gulcebi MI, et al. Epilepsy Behav. 2021 Mar;116:107791. doi: 10.1016/j.yebeh.2021.107791. Epub 2021 Feb 10. Epilepsy Behav. 2021. PMID: 33578223 Free PMC article. Review.
Newly diagnosed seizures assessed at two established first seizure clinics: Clinic characteristics, investigations, and findings over 11 years.
McIntosh AM, Tan KM, Hakami TM, Newton MR, Carney PW, Yang M, Saya S, Marco DJT, Perucca P, Kwan P, O'Brien TJ, Berkovic SF. McIntosh AM, et al. Among authors: perucca p. Epilepsia Open. 2021 Jan 13;6(1):171-180. doi: 10.1002/epi4.12460. eCollection 2021 Mar. Epilepsia Open. 2021. PMID: 33681660 Free PMC article.
165 results