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24. 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. Brain; 2017 May 01; 140(5):1316-1336. PubMed ID: 28379373 [Abstract] [Full Text] [Related]
25. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome? Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS. Epilepsy Res; 2015 Jan 01; 109():34-9. PubMed ID: 25524840 [Abstract] [Full Text] [Related]
26. Mutations of voltage-gated sodium channels in movement disorders and epilepsy. Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A. Novartis Found Symp; 2002 Jan 01; 241():72-81; discussion 82-6, 226-32. PubMed ID: 11771652 [Abstract] [Full Text] [Related]
27. Low frequency stimulation decreases seizure activity in a mutation model of epilepsy. Kile KB, Tian N, Durand DM. Epilepsia; 2010 Sep 01; 51(9):1745-53. PubMed ID: 20659150 [Abstract] [Full Text] [Related]
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30. Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy. Vanoye CG, Lossin C, Rhodes TH, George AL. J Gen Physiol; 2006 Jan 15; 127(1):1-14. PubMed ID: 16380441 [Abstract] [Full Text] [Related]
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