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Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ. Lee WS, et al. Among authors: mandelstam sa. Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17. Ann Clin Transl Neurol. 2019. PMID: 31353856 Free PMC article.
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Leventer RJ, et al. Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19. Brain. 2010. PMID: 20403963 Free PMC article.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group. Weckhuysen S, et al. Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9. Neurology. 2013. PMID: 24107868 Free PMC article.
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.
Leventer RJ, Jansen FE, Mandelstam SA, Ho A, Mohamed I, Sarnat HB, Kato M, Fukasawa T, Saitsu H, Matsumoto N, Itoh M, Kalnins RM, Chow CW, Harvey AS, Jackson GD, Crino PB, Berkovic SF, Scheffer IE. Leventer RJ, et al. Among authors: mandelstam sa. Epilepsia. 2014 Mar;55(3):e22-6. doi: 10.1111/epi.12533. Epub 2014 Feb 6. Epilepsia. 2014. PMID: 24502525 Free article.
74 results