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