Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

Annals of Neurology

Volumn 77, Issue 4, 2015, Pages 720-725

  D'Gama, Alissa M ^a,b,c   Geng, Ying ^a   Couto, Javier A ^b   Martin, Beth ^d   Boyle, Evan A ^d   Lacoursiere, Christopher M ^b   Hossain, Amer ^a,b,c   Hatem, Nicole E ^a,b,c   Barry, Brenda J ^a,b,c   Kwiatkowski, David J ^b   Vinters, Harry V ^e   Barkovich, A James ^f   Shendure, Jay ^d   Mathern, Gary W ^g   Walsh, Christopher A ^a,b,c   Poduri, Annapurna ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g MATTEL CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; DEPDC5 PROTEIN, HUMAN; MTOR PROTEIN, HUMAN; REPRESSOR PROTEIN; TARGET OF RAPAMYCIN KINASE;

ALEXANDER DISEASE; ARTICLE; COMPLEX PARTIAL SEIZURE; CORTICAL DYSPLASIA; DEPDC5 GENE; DNA SEQUENCE; EXOME; GENE; GENE FREQUENCY; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MUTATION; GRAY MATTER; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOSAIC MUTATION; MOSAICISM; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; WHITE MATTER; COHORT ANALYSIS; GENETICS; HEMIMEGALENCEPHALY; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION;

COHORT STUDIES; HEMIMEGALENCEPHALY; HUMANS; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; REPRESSOR PROTEINS; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES;

EID: 84925674581     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24357     Document Type: Article

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