Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Brain

Volumn 140, Issue 10, 2017, Pages 2610-2622

  Alcantara, Diana ^a,b   Timms, Andrew E ^c,d   Gripp, Karen ^c,d   Baker, Laura ^b   Park, Kaylee ^b   Collins, Sarah ^b   Cheng, Chi ^e   Stewart, Fiona ^f   Mehta, Sarju G ^g   Saggar, Anand ^h   Sztriha, László ^h   Zombor, Melinda ⁱ   Caluseriu, Oana ^j   Mesterman, Ronit ^k,l   Van Allen, Margot I ^m   Jacquinet, Adeline ⁿ   Ygberg, Sofia ^o   Bernstein, Jonathan A ^o   Wenger, Aaron M ^o   Guturu, Harendra ^o   Bejerano, Gill ^o   Gomez Ospina, Natalia ^o   Lehman, Anna ^k   Alfei, Enrico ^p   Pantaleoni, Chiara ^p   Conti, Valerio ^q   Guerrini, Renzo ^q,r   Moog, Ute ^s   Graham, John M ^t   Hevner, Robert ^b,u   Dobyns, William B ^b,u   O'Driscoll, Mark ^a   Mirzaa, Ghayda M ^b,u   more..

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^e ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^h UNIVERSITY OF SZEGED   (Hungary)

ⁱ UNIVERSITY OF ALBERTA   (Canada)

^j MCMASTER UNIVERSITY   (Canada)

^k UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^l BC CHILDREN S HOSPITAL   (Canada)

^m UNIVERSITY OF LIÈGE   (Belgium)

ⁿ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^o STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p DEPARTMENT OF NEUROSURGERY   (Italy)

^q UNIVERSITY OF FLORENCE   (Italy)

^r DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^s UNIVERSITY OF HEIDELBERG   (Germany)

^t UNIVERSITY OF CALIFORNIA   (United States)

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

more..

Author keywords

AKT3; epilepsy; hemimegalencephaly; megalencephaly; polymicrogyria

Indexed keywords

PHOSPHOLIPID; AKT3 PROTEIN, HUMAN; PHOSPHATIDYLINOSITOL; PROTEIN KINASE B;

AKT3 GENE; ALEXANDER DISEASE; ARTICLE; AUTISM; BINDING AFFINITY; BRAIN MALFORMATION; BRAIN SIZE; CORTICAL DYSPLASIA; DEVELOPMENTAL DISORDER; EARLY DIAGNOSIS; ENZYME ACTIVITY; EX VIVO STUDY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KINASE ASSAY; MICROGYRIA; MOSAICISM; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PLECKSTRIN HOMOLOGY DOMAIN; PRIORITY JOURNAL; SANGER SEQUENCING; BRAIN; CHILD; DIAGNOSTIC IMAGING; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC TRANSFECTION; GENETICS; HEK293 CELL LINE; IMMUNOPRECIPITATION; MALE; METABOLISM; MUTATION; PATHOLOGY; PROCEDURES; SITE DIRECTED MUTAGENESIS;

BRAIN; CHILD; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; IMMUNOPRECIPITATION; MAGNETIC RESONANCE IMAGING; MALE; MEGALENCEPHALY; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHOSPHATIDYLINOSITOLS; PROTO-ONCOGENE PROTEINS C-AKT; TRANSFECTION;

EID: 85030687641     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awx203     Document Type: Article

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