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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: nikanorova m. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Møller RS, et al. Among authors: nikanorova m. Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20. Mol Syndromol. 2016. PMID: 27781031 Free PMC article.
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Wolking S, Moreau C, Nies AT, Schaeffeler E, McCormack M, Auce P, Avbersek A, Becker F, Krenn M, Møller RS, Nikanorova M, Weber YG, Weckhuysen S, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Schwab M, Krause R, Sisodiya SM, Cossette P, Girard SL, Lerche H; EpiPGX Consortium. Wolking S, et al. Among authors: nikanorova m. Epilepsia. 2020 Apr;61(4):657-666. doi: 10.1111/epi.16467. Epub 2020 Mar 6. Epilepsia. 2020. PMID: 32141622 Free article.
Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study.
Pavlidis E, Møller RS, Nikanorova M, Kölmel MS, Stendevad P, Beniczky S, Tassinari CA, Rubboli G, Gardella E. Pavlidis E, et al. Among authors: nikanorova m. Epilepsy Behav. 2019 Aug;97:244-252. doi: 10.1016/j.yebeh.2019.05.030. Epub 2019 Jun 26. Epilepsy Behav. 2019. PMID: 31254844
71 results