Tuberous sclerosis complex (TSC)
A multi-system genetic condition driven by overactive mTOR — where preventive treatment, mTOR inhibitors and CBD have transformed care.
Tuberous sclerosis complex is a genetic condition caused by changes in the TSC1 or TSC2 gene, leading to overactivity of the mTOR pathway and the growth of benign tumours in many organs — including the brain, skin, heart, kidneys and eyes. In children the brain is often most important: epilepsy (frequently infantile spasms), developmental and behavioural difficulties (TSC-associated neuropsychiatric disorders, TAND), and benign brain tumours (SEGAs). Care has advanced markedly, with preventive treatment of epilepsy, targeted mTOR inhibitors and cannabidiol all now part of the picture.
At a glance
- Genes
- TSC1 or TSC2 → overactive mTOR pathway
- Affects
- Brain, skin, heart, kidneys, eyes
- Brain features
- Epilepsy (often infantile spasms), TAND, SEGA
- Targeted therapy
- mTOR inhibitors (everolimus); CBD for seizures
- Prevention
- Pre-symptomatic vigabatrin can delay/reduce epilepsy
What TSC is
TSC arises when one working copy of TSC1 or TSC2 is lost, removing a brake on the mTOR growth pathway. The result is benign growths (hamartomas) in multiple organs and a range of effects that vary widely between individuals — even within the same family. In childhood, the neurological features usually matter most: epilepsy, developmental and behavioural difficulties, and brain lesions (cortical tubers and subependymal nodules/SEGAs).
Epilepsy and TAND
Epilepsy affects most children with TSC and often begins as infantile spasms (West syndrome). Beyond seizures, TSC-associated neuropsychiatric disorders (TAND) — including autism, intellectual disability, ADHD, anxiety and behavioural challenges — are very common and benefit from being actively screened for and addressed, not just the seizures.
Treatment: prevention, precision and CBD
Three advances have reshaped TSC epilepsy care. Preventive treatment: in infants with TSC, starting vigabatrin before seizures become established (guided by EEG monitoring) can delay seizure onset and reduce severity and the risk of epileptic encephalopathy. Precision therapy: because the root problem is mTOR overactivity, the mTOR inhibitor everolimus targets the mechanism directly and is established for TSC-associated refractory seizures (as well as SEGAs and kidney angiomyolipomas). And pharmaceutical-grade cannabidiol is approved as an add-on for TSC-associated seizures.
Vigabatrin is also the first-choice medicine for infantile spasms in TSC. Selected children with a clear seizure focus may benefit from epilepsy surgery.
TSC is a flagship example of precision medicine: treatments such as everolimus target the underlying mTOR overactivity, and preventive vigabatrin can change the course of the epilepsy. Care is best coordinated by a multidisciplinary TSC team.
How an educational review can help
TSC affects many organs and brings questions about seizures, development, behaviour, brain lesions and surveillance of other organs. An educational review can explain the findings and how preventive, targeted (mTOR inhibitor) and other treatments fit together, helping you prepare questions for your treating team. It is educational and does not replace your clinician's care.
Selected sources
- Updated clinical recommendations for the management of tuberous sclerosis complex–associated epilepsy. European Journal of Paediatric Neurology. 2023.
- EPISTOP and related trials of pre-symptomatic vigabatrin in TSC.
- Evidence for everolimus (mTOR inhibition) and cannabidiol in TSC-associated seizures.
Last reviewed: 2026-05-22
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