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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: oiglane shlik e. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Incidence of Childhood Epilepsy in Estonia.
Veri K, Talvik I, Vaher U, Napa A, Ilves P, Uibo O, Õiglane-Shlik E, Laugesaar R, Rein R, Kolk A, Noormets K, Reimand T, Õunap K, Talvik T. Veri K, et al. Among authors: oiglane shlik e. J Child Neurol. 2018 Aug;33(9):587-592. doi: 10.1177/0883073818776760. Epub 2018 Jun 4. J Child Neurol. 2018. PMID: 29862897
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: oiglane shlik e. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. Zufferey F, et al. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. J Med Genet. 2012. PMID: 23054248 Free PMC article.
Epilepsy after perinatal stroke with different vascular subtypes.
Laugesaar R, Vaher U, Lõo S, Kolk A, Männamaa M, Talvik I, Õiglane-Shlik E, Loorits D, Talvik T, Ilves P. Laugesaar R, et al. Among authors: oiglane shlik e. Epilepsia Open. 2018 Mar 2;3(2):193-202. doi: 10.1002/epi4.12104. eCollection 2018 Jun. Epilepsia Open. 2018. PMID: 29881798 Free PMC article.
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Reinson K, et al. Among authors: oiglane shlik e. Eur J Med Genet. 2019 Nov;62(11):103572. doi: 10.1016/j.ejmg.2018.11.006. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423443
18 results