For patients with Tuberous Sclerosis Complex (TSC) who experience seizures, current guidelines emphasise the importance of early referral for assessment, particularly if they have drug-resistant epilepsy NICE NG217. If MRI abnormalities, such as those seen in TSC, indicate a high risk of drug-resistant epilepsy, early referral to a tertiary epilepsy service for assessment, including evaluation for resective epilepsy surgery, should be considered NICE NG217. For adults, this referral should be to a tertiary epilepsy service NICE NG217. For children and young people, it should be to a tertiary paediatric neurology service for consideration of referral to a children's epilepsy surgery centre NICE NG217. Importantly, people with learning disabilities or underlying genetic abnormalities should not be excluded from referral for resective epilepsy surgery assessment if it is indicated NICE NG217.
In cases of drug-resistant seizures where resective epilepsy surgery is not suitable, vagus nerve stimulation can be considered as an add-on treatment to antiseizure medication NICE NG217. A ketogenic diet may also be considered for drug-resistant epilepsy if other treatment options are unsuccessful or inappropriate, under the guidance of a tertiary epilepsy specialist NICE NG217.
Emergency Management of Seizures:
- Repeated or Cluster Seizures: If a patient experiences repeated or cluster seizures (typically 3 or more self-terminating seizures in 24 hours), this should be managed as a medical emergency NICE NG217. The individualised emergency management plan should be followed, if immediately available NICE NG217. Alternatively, a benzodiazepine such as clobazam or midazolam should be considered immediately if a plan is not readily available NICE NG217. Expert guidance should be sought if the person has further episodes of repeated or cluster seizures NICE NG217. An emergency management plan should be agreed upon after repeated or cluster seizures if one does not already exist and there is concern that they may recur NICE NG217.
- Prolonged Seizures: Prolonged convulsive seizures (any convulsive seizure continuing for 5 minutes or more, or more than 2 minutes longer than a person's usual seizure) are also a medical emergency NICE NG217. Similar to cluster seizures, the individualised emergency management plan should be followed if immediately available NICE NG217. Otherwise, a benzodiazepine like midazolam or clobazam should be considered immediately NICE NG217. After a prolonged convulsive or non-convulsive seizure, an emergency management plan should be agreed with the person if they do not already have one and there is concern that prolonged seizures may recur NICE NG217.
- Status Epilepticus: For convulsive status epilepticus (seizures lasting 5 minutes or more), resuscitation and immediate emergency treatment are required for children, young people, and adults NICE NG217.
Associated Comorbidities:
It is important to be aware that people with epilepsy, including those with TSC, have a higher prevalence of mental health difficulties, learning disabilities, neurodevelopmental comorbidities (for example, attention deficit hyperactivity disorder and autism spectrum disorder), and a higher risk of suicide compared with the general population NICE NG217. Information and support should address these aspects, including the impact of epilepsy and medication on cognitive function, and emotional health and psychological wellbeing NICE NG217.