Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Mirzaa, Ghayda M; Campbell, Catarina D; Solovieff, Nadia; Goold, Carleton P; Jansen, Laura A; Menon, Suchithra; Timms, Andrew E; Conti, Valerio; Biag, Jonathan D; Olds, Carissa; Boyle, Evan August; Collins, Sarah; Ishak, Gisele; Poliachik, Sandra L; 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 J; Mahan, Scott; Liu, Shanming; Weaver, Molly; Dorschner, Michael O; 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 P; Hevner, Robert F; Ojemann, Jeffrey G; Guerrini, Renzo; Murphy, Leon O; Winckler, Wendy; Dobyns, William B.

doi:10.1001/jamaneurol.2016.0363

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.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism / Mirzaa, Ghayda M; Campbell, Catarina D; Solovieff, Nadia; Goold, Carleton P; Jansen, Laura A; Menon, Suchithra; Timms, Andrew E; Conti, Valerio; Biag, Jonathan D; Olds, Carissa; Boyle, Evan August; Collins, Sarah; Ishak, Gisele; Poliachik, Sandra L; 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 J; Mahan, Scott; Liu, Shanming; Weaver, Molly; Dorschner, Michael O; 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 P; Hevner, Robert F; Ojemann, Jeffrey G; Guerrini, Renzo; Murphy, Leon O; Winckler, Wendy; Dobyns, William B. - In: JAMA NEUROLOGY. - ISSN 2168-6157. - STAMPA. - 73:(2016), pp. 836-845. [10.1001/jamaneurol.2016.0363]