Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism | Zendy

Ghayda Mirzaa | Zendy; Catarina D. Campbell | Zendy; Nadia Solovieff | Zendy; Carleton P. Goold | Zendy; Laura A. Jansen | Zendy; Suchithra Me | Zendy; Andrew E. Timms | Zendy; Valerio Conti | Zendy; Jonathan Biag | Zendy; Carissa Olds | Zendy; Evan A. Boyle | Zendy; Sarah Collins | Zendy; Gisele E. Ishak | Zendy; Sandra L. Poliachik | Zendy; Katta M. Girisha | Zendy; Kit San Yeung | Zendy; Brian HonYin Chung | Zendy; Elisa Rahikkala | Zendy; Sonya A. Gunter | Zendy; Sharon S. McDaniel | Zendy; Colleen Macmurdo | Zendy; Jonathan A. Bernstein | Zendy; Beth Martin | Zendy; Rebecca Leary | Zendy; Scott Mahan | Zendy; Shanming Liu | Zendy; Molly Weaver | Zendy; Michael O. Dorschner | Zendy; Shalini N. Jhangiani | Zendy; Donna M. Muzny | Zendy; Eric Boerwinkle | Zendy; Richard A. Gibbs | Zendy; James R. Lupski | Zendy; Jay Shendure | Zendy; Russell P. Saneto | Zendy; Edward J. Novotny | Zendy; Christopher J. Wilson | Zendy; William R. Sellers | Zendy; Michael Morrissey | Zendy; Robert F. Hevner | Zendy; Jeffrey G. Ojemann | Zendy; Renzo Guerrini | Zendy; Leon O. Murphy | Zendy; Wendy Winckler | Zendy; William B. Dobyns | Zendy

Open Access

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Author(s) -

Ghayda Mirzaa,

Catarina D. Campbell,

Nadia Solovieff,

Carleton P. Goold,

Laura A. Jansen,

Suchithra Me,

Andrew E. Timms,

Valerio Conti,

Jonathan Biag,

Carissa Olds,

Evan A. Boyle,

Sarah Collins,

Gisele E. Ishak,

Sandra L. Poliachik,

Katta M. Girisha,

Kit San Yeung,

Brian HonYin Chung,

Elisa Rahikkala,

Sonya A. Gunter,

Sharon S. McDaniel,

Colleen Macmurdo,

Jonathan A. Bernstein,

Beth Martin,

Rebecca Leary,

Scott Mahan,

Shanming Liu,

Molly Weaver,

Michael O. Dorschner,

Shalini N. Jhangiani,

Donna M. Muzny,

Eric Boerwinkle,

Richard A. Gibbs,

James R. Lupski,

Jay Shendure,

Russell P. Saneto,

Edward J. Novotny,

Christopher J. Wilson,

William R. Sellers,

Michael Morrissey,

Robert F. Hevner,

Jeffrey G. Ojemann,

Renzo Guerrini,

Leon O. Murphy,

Wendy Winckler,

William B. Dobyns

Publication year - 2016

Publication title -

jama neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.298

H-Index - 231

eISSN - 2168-6157

pISSN - 2168-6149

DOI - 10.1001/jamaneurol.2016.0363

Subject(s) - megalencephaly , cortical dysplasia , neuroscience , dysplasia , pi3k/akt/mtor pathway , polymicrogyria , medicine , pathology , biology , genetics , epilepsy , signal transduction

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.

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