PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Brain

Volumn 138, Issue 6, 2015, Pages 1613-1628

  Jansen, Laura A ^a,b   Mirzaa, Ghayda M ^b,c   Ishak, Gisele E ^d   O'Roak, Brian J ^c,e   Hiatt, Joseph B ^c   Roden, William H ^b   Gunter, Sonya A ^a   Christian, Susan L ^b   Collins, Sarah ^b   Adams, Carissa ^b   Rivière, Jean Baptiste ^b,f   St Onge, Judith ^b,f   Ojemann, Jeffrey G ^c   Shendure, Jay ^c   Hevner, Robert F ^b,c   Dobyns, William B ^b,c  

^a UNIVERSITY OF VIRGINIA   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d SEATTLE CHILDREN S HOSPITAL   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f UNIVERSITÉ DE BOURGOGNE   (France)

Author keywords

Brain development; Childhood epilepsy; Malformations of cortical development; Molecular genetics

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE B; PROTEIN S6; AKT3 PROTEIN, HUMAN; PIK3CA PROTEIN, HUMAN; PTEN PROTEIN, HUMAN; S6 KINASE;

ALEXANDER DISEASE; ARTICLE; ASTROCYTE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CORTICAL DYSPLASIA; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOLOGY; IN VITRO STUDY; INTRACTABLE EPILEPSY; MALE; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SPECTRUM OF CONGENITAL DEFECTS; ABNORMALITIES; ADOLESCENT; BRAIN; GENETIC PREDISPOSITION; GENETICS; INFANT; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; SIGNAL TRANSDUCTION;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMIMEGALENCEPHALY; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MEGALENCEPHALY; MUTATION; NEUROIMAGING; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; PTEN PHOSPHOHYDROLASE; RIBOSOMAL PROTEIN S6 KINASES; SIGNAL TRANSDUCTION;

EID: 84939654470     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv045     Document Type: Article

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