Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism

JAMA Neurology

Volumn 73, Issue 7, 2016, Pages 836-845

  Mirzaa, Ghayda M ^a,b   Campbell, Catarina D ^c   Solovieff, Nadia ^c   Goold, Carleton P ^c   Jansen, Laura A ^d   Menon, Suchithra ^c   Timms, Andrew E ^b   Conti, Valerio ^e,f   Biag, Jonathan D ^c   Olds, Carissa ^b   Boyle, Evan August ^g   Collins, Sarah ^b   Ishak, Gisele ^h   Poliachik, Sandra L ^h   Girisha, Katta M ⁱ   Yeung, Kit San ^j   Chung, Brian Hon Yin ^j   Rahikkala, Elisa ^k,l   Gunter, Sonya A ^d   McDaniel, Sharon S ^m   Macmurdo, Colleen Forsyth ^g   Bernstein, Jonathan A ^g   Martin, Beth ⁿ   Leary, Rebecca J ^c   Mahan, Scott ^c   Liu, Shanming ^c   Weaver, Molly ⁿ   Dorschner, Michael O ⁿ   Jhangiani, Shalini ^o   Muzny, Donna M ^o   Boerwinkle, Eric ^o,p   Gibbs, Richard A ^o   Lupski, James R ^o,q   Shendure, Jay ⁿ   Saneto, Russell P ^b,n   Novotny, Edward J ^b,n   Wilson, Christopher J ^r   Sellers, William R ^c   Morrissey, Michael P ^c   Hevner, Robert F ^a,b   Ojemann, Jeffrey G ^a   Guerrini, Renzo ^e,f,s   Murphy, Leon O ^c   Winckler, Wendy ^c   Dobyns, William B ^a,b   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c NOVARTIS INSTITUTES FOR BIOMEDICAL RESEARCH   (United States)

^d UNIVERSITY OF VIRGINIA   (United States)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h SEATTLE CHILDREN S HOSPITAL   (United States)

ⁱ KASTURBA MEDICAL COLLEGE   (India)

^j UNIVERSITY OF HONG KONG   (Hong Kong)

^k UNIVERSITY OF OULU   (Finland)

^l OULU UNIVERSITY HOSPITAL   (Finland)

^m KAISER PERMANENTE   (United States)

ⁿ UNIVERSITY OF WASHINGTON   (United States)

^o BAYLOR COLLEGE OF MEDICINE   (United States)

^p UNIVERSITY OF TEXAS   (United States)

^q Texas Children's Hospital   (United States)

^r EDITAS MEDICINE   (United States)

^s DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; AMINO ACID; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 1; MTOR PROTEIN, HUMAN; MULTIPROTEIN COMPLEX; NERVE PROTEIN; SIGNAL PEPTIDE; TARGET OF RAPAMYCIN KINASE;

ADOLESCENT; ADULT; AKT GENE; ALEXANDER DISEASE; ARTICLE; BRAIN DISEASE; CHILD; CHILDHOOD MORTALITY; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICAL DYSPLASIA; DEPDC5 GENE; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; EPILEPTOGENESIS; EXOME; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INDEL MUTATION; INTELLECTUAL IMPAIRMENT; MORBIDITY; MOSAICISM; MTOR GENE; MUTATIONAL ANALYSIS; PIK3CA GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ANIMAL; BRAIN CORTEX; CELL CULTURE; CYTOLOGY; DEFICIENCY; DIAGNOSTIC IMAGING; DRUG EFFECTS; FEMALE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDY; GENETICS; MALE; MAMMALIAN EMBRYO; METABOLISM; MUTATION; NERVE CELL; PRESCHOOL CHILD; RAT; RETROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACIDS; ANIMALS; CELLS, CULTURED; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EMBRYO, MAMMALIAN; FEMALE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MEGALENCEPHALY; MOSAICISM; MULTIPROTEIN COMPLEXES; MUTATION; NERVE TISSUE PROTEINS; NEURONS; RATS; RETROSPECTIVE STUDIES; TOR SERINE-THREONINE KINASES; YOUNG ADULT;

EID: 84971484777     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2016.0363     Document Type: Article

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