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Gain-of-function HCN2 variants in genetic epilepsy.
Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA. Li M, et al. Among authors: petrou s. Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13. Hum Mutat. 2018. PMID: 29064616
SCN1A mutations and epilepsy.
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. Mulley JC, et al. Among authors: petrou s. Hum Mutat. 2005 Jun;25(6):535-42. doi: 10.1002/humu.20178. Hum Mutat. 2005. PMID: 15880351 Review.
Sodium channels and the neurobiology of epilepsy.
Oliva M, Berkovic SF, Petrou S. Oliva M, et al. Among authors: petrou s. Epilepsia. 2012 Nov;53(11):1849-59. doi: 10.1111/j.1528-1167.2012.03631.x. Epub 2012 Aug 20. Epilepsia. 2012. PMID: 22905747 Free article. Review.
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, Lesca G, Maljevic S, Lerche H. Krüger J, et al. Among authors: petrou s. EBioMedicine. 2022 Oct;84:104244. doi: 10.1016/j.ebiom.2022.104244. Epub 2022 Sep 9. EBioMedicine. 2022. PMID: 36088682 Free PMC article.
Channelopathies as a genetic cause of epilepsy.
Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Mulley JC, et al. Among authors: petrou s. Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7. Curr Opin Neurol. 2003. PMID: 12644745 Review.
718 results