De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Nature Genetics

Volumn 44, Issue 8, 2012, Pages 941-945

  Lee, Jeong Ho ^a,b,i   Huynh, My ^c,d   Silhavy, Jennifer L ^a,b   Kim, Sangwoo ^e   Dixon Salazar, Tracy ^a,b   Heiberg, Andrew ^a,b   Scott, Eric ^a,b   Bafna, Vineet ^e   Hill, Kiley J ^a,b   Collazo, Adrienne ^a,b   Funari, Vincent ^f,g   Russ, Carsten ^h   Gabriel, Stacey B ^h   Mathern, Gary W ^c,d   Gleeson, Joseph G ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c MATTEL CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^f CEDARS SINAI MEDICAL CENTER   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

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

ⁱ Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; PROTEIN S6;

ALEXANDER DISEASE; ALLELE; ARTICLE; BRAIN REGION; CHILD; CLINICAL ARTICLE; FEMALE; GENE FUNCTION; HUMAN; INFANT; MALE; MASS SPECTROMETRY; MOLECULAR PATHOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; SOMATIC MUTATION;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MOSAICISM; MUTATION, MISSENSE; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES;

MAMMALIA;

EID: 84864402732     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2329     Document Type: Article

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