Table 1.

mTORopathy genes, diseases and clinical manifestations

Gene mutations	Associated Diseases and Syndromes		Clinical Manifestations*		Refs
		Abbreviation	Neurological	Psychiatric
TSC1 TSC2	Tuberous Sclerosis Complex	TSC	Tubers, SENs, SEGAs, Epilepsy, Infantile spasms, Altered white matter	ID, ASD, ADHD, other behavioral conditions	[36, 38, 42, 51–58]
PTEN	PTEN hamartoma tumor syndrome (incl. Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Lhermitte-Duclos disease)	PHTS	Macrocephaly	ID, ASD	[61, 63–67]
MTOR PIK3CA RHEB AKT3 TSC1 TSC2 DEPDC5 NPRL2 NPRL3	Malformations of cortical development	MCD	FCD, HME, ME, Epilepsy, Infantile spasms	ID	[68–74, 85–87]
NF1	Neurofibromatosis type 1	NF1	Macrocephaly, Epilepsy, Ataxia, Altered white matter	ID, ASD, ADHD, Learning disabilities	[91]
STRADA	Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome	PMSE	ME, Epilepsy	ID, Psychomotor retardation	[90]
TBC1D7	-		Macrocephaly/ME	ID	[59–60]

(ADHD) Attention deficit hyperactivity disorder, (ASD) Autism spectrum disorder, (FCD) Focal cortical dysplasia, (HME) Hemimegalencephaly, (ID) Intellectual disability, (ME) megalencephaly, (SENs) subependymal nodules, (SEGAs) subependymal giant cell astrocytomas

^*Listed are the primary neuropsychiatric presentations of these diseases as listed in the references noted, the NIH Genetic and Rare Diseases Information Center, and OMIM database. Other manifestations may be present in these disorders and not all patients may present with all manifestations listed here.