Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa, Ghayda M
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. [electronic resource] - JAMA neurology 07 2016 - 836-845 p. digital
Publication Type: Journal Article
2168-6157
10.1001/jamaneurol.2016.0363 doi
Adolescent
Adult
Amino Acids--pharmacology
Animals
Cells, Cultured
Cerebral Cortex--cytology
Child
Child, Preschool
Developmental Disabilities--diagnostic imaging
Embryo, Mammalian
Female
Gene Expression Regulation--drug effects
Genetic Association Studies
Humans
Intercellular Signaling Peptides and Proteins--deficiency
Male
Malformations of Cortical Development--diagnostic imaging
Mechanistic Target of Rapamycin Complex 1
Megalencephaly--diagnostic imaging
Mosaicism
Multiprotein Complexes--pharmacology
Mutation--genetics
Nerve Tissue Proteins--genetics
Neurons--drug effects
Rats
Retrospective Studies
TOR Serine-Threonine Kinases--genetics
Young Adult
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. [electronic resource] - JAMA neurology 07 2016 - 836-845 p. digital
Publication Type: Journal Article
2168-6157
10.1001/jamaneurol.2016.0363 doi
Adolescent
Adult
Amino Acids--pharmacology
Animals
Cells, Cultured
Cerebral Cortex--cytology
Child
Child, Preschool
Developmental Disabilities--diagnostic imaging
Embryo, Mammalian
Female
Gene Expression Regulation--drug effects
Genetic Association Studies
Humans
Intercellular Signaling Peptides and Proteins--deficiency
Male
Malformations of Cortical Development--diagnostic imaging
Mechanistic Target of Rapamycin Complex 1
Megalencephaly--diagnostic imaging
Mosaicism
Multiprotein Complexes--pharmacology
Mutation--genetics
Nerve Tissue Proteins--genetics
Neurons--drug effects
Rats
Retrospective Studies
TOR Serine-Threonine Kinases--genetics
Young Adult