25722288Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WBBrain : a journal of neurologyBrain; Hemimegalencephaly; Malformations of Cortical Development; Megalencephaly; Phosphatidylinositol 3-Kinases; Proto-Oncogene Proteins c-akt; Signal TransductionAdolescent; Child; Child, Preschool; Class I Phosphatidylinositol 3-Kinases; Female; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Mutation; Neuroimaging; PTEN Phosphohydrolase; Ribosomal Protein S6 KinasesPI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain. 2015 Jun; 138(Pt 6):1613-28.Brain2015-02-25T00:00:002015PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000293Living Beings111389680.400538AdolescentD001921Anatomy49222110.472349BrainD002648Living Beings93969130.440034ChildD002675Living Beings65236080.594942Child, PreschoolD007231Living Beings50923690.641593Infant, NewbornD007223Living Beings60430360.61304InfantD009154Physiology70239520.442648MutationD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD054220Disorders8390.962948Malformations of Cortical DevelopmentD058627Disorders6210.974869MegalencephalyD019893Chemicals & Drugs9100.996915Ribosomal Protein S6 KinasesD058534Chemicals & Drugs32560.967958Class I Phosphatidylinositol 3-KinasesD051059Chemicals & Drugs821280.915032PTEN PhosphohydrolaseD019869Chemicals & Drugs1352620.903387Phosphatidylinositol 3-KinasesD059906Procedures651130.904138NeuroimagingD065705Disorders120.998244HemimegalencephalyD008279Concepts & IdeasProcedures53033470.417684Magnetic Resonance ImagingD015398Physiology69932330.460036Signal TransductionD020022Physiology39922670.521961Genetic Predisposition to DiseaseD051057Chemicals & Drugs1483210.870521Proto-Oncogene Proteins c-aktHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 79594140.1331670.1331671authors10.2522has subject area