Nakashima M et al. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol. 2015;78(3):375-86. PMID: 26018084.
Lim JS et al. Brain somatic mutations in MTOR leading to focal cortical dysplasia. BMB Rep. 2016;49(2):71-2. PMID: 26779999.
Mirzaa GM et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016;73(7):836-845. PMID: 27159400.
Park SM et al. Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination. Neuron. 2018;99(1):83-97. PMID: 29937275.
D’Gama AM et al. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017;21(13):3754-3766. PMID: 29281825.
Mühlebner A et al. New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives. J Anat. 2019.doi: 10.1111/joa.12956. [Epub ahead of print] Review. PMID: 30901081.