Article
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
JAMA neurology - 1 Jul 2016
Mirzaa Ghayda M, Campbell Catarina D, Solovieff Nadia, Goold Carleton, Jansen Laura A, Menon Suchithra, Timms Andrew E, Conti Valerio, Biag Jonathan D, Adams Carissa, Boyle Evan August, Collins Sarah, Ishak Gisele, Poliachik Sandra, Girisha Katta M, Yeung Kit San, Chung Brian Hon Yin, Rahikkala Elisa, Gunter Sonya A, McDaniel Sharon S, Macmurdo Colleen Forsyth, Bernstein Jonathan A, Martin Beth, Leary Rebecca, Mahan Scott, Liu Shanming, Weaver Molly, Doerschner Michael, Jhangiani Shalini, Muzny Donna M, Boerwinkle Eric, Gibbs Richard A, Lupski James R, Shendure Jay, Saneto Russell P, Novotny Edward J, Wilson Christopher J, Sellers William R, Morrissey Michael, Hevner Robert F, Ojemann Jeffrey G, Guerrini Renzo, Murphy Leon O, Winckler Wendy, Dobyns William B
Abstract excerpt
IMPORTANCE: Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality. OBJECTIVE: To identify the underlying molecular cause of FCD, hemimegalencephaly, and diffuse megalencephaly. DESIGN, SETTING, AND PARTICIPANTS:...
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