ASD |
Anti-seizure drug |
AKT |
Protein kinase B (PKB) |
APDS |
Activated phosphoinositide 3-kinase δ syndrome |
BRRS |
Bannayan-Riley-Ruvalcaba-Syndrom |
CLL |
Chronic lymphatic leukemia |
CLOVES |
congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies |
CNS |
Central nervous system |
CS |
Cowden Syndrome |
FCD |
Focal Cortical Dysplasia |
FCM |
Focal cortical malformation |
GOF |
Gain of Function |
GPCR |
G protein-coupled receptor |
LOF |
Loss of Function |
MCAP |
megalencephaly capillary malformation |
mTOR |
Mammalian target of rapamycin |
PI3K |
Phosphatidyl inositol-3-kinase |
PIP2 |
Phosphatidylinositolbisphosphate |
PK |
Pharmacokinetic |
PROS |
PIK3CA-related overgrowth spectrum |
PTEN |
Phosphatase And Tensin Homolog |
RTK |
Receptor tyrosine kinase |
SEGA |
Subependymal giant cell astrocytoma |
TAND |
TSC-associated neuropsychiatric disorders |
TORKi |
mTOR kinase inhibitor |
TSC |
Tuberous Sclerosis Complex |