Focal seizures are the most common seizure in people living with TSC. These seizures may cause a sudden strange mix of feelings, emotions and thoughts. The person remains fully conscious and may still talk or interact with surroundings. This may be accompanied by jerking of one side of the face, arm or leg. The seizure may also accompany a slight dreaminess or lack of awareness. A ‘complex’ partial seizure may last for a few seconds to many minutes.

Around four out of every 10 infants under the age of two who live with TSC will develop a type of epilepsy called ‘infantile spasms’. A child with infantile spasms will jerk suddenly in all or some parts of the body. Infantile spasms are often and easily mistaken for other conditions, such as the ‘startle reflex’ in newborns, colic or reflux.

If left untreated, infantile spasms may result in the developmental delay of the child. For this reason, it is important that parents or carers who think that a child might be experiencing infantile spasms seeks medical advice as soon as possible.

Infantile spasms may first appear subtle, such as a gentle head nod or chin thrust. These movements are usually brief and occur several times in a row. Over time, the signs of seizures tend to become more pronounced jerking movements. Most commonly, infantile spasms happen either first thing in the morning or on waking from a nap. The child will often seem sleepy afterwards, despite having only just woken up.

Once a child begins to have infantile spasms, you may notice that their development slows down. There could be a loss of skills that the child had previously learned, with the child possibly becoming less interested in people and their surroundings. The child’s sleep pattern may become disrupted and they may seem irritable, distant or just different from their usual self.

Infantile spasms can be different from child to child, but as a parent or carer you are the best person to notice changes in your child. Therefore, it is important that your concerns are taken seriously by a clinician should you raise them.

With thanks to the European TSC Association, we are also pleased to share the below videos discussing infantile spasms in detail, the importance of early intervention and treatment options.

Previously known as ‘petit mal’ attacks, absence seizures usually occur frequently but briefly (lasting 5-30 seconds) and are rare in people living with TSC. Someone experiencing an absence seizure may briefly loose awareness, stop talking or appear to stare into the distance. There are no abnormal movements in an absence seizure.

Atonic Seizures are sometimes called ‘drop attacks’ or ‘astatic seizures’. Someone experiencing an atonic seizure will suddenly fall to the ground without warning. However, they quickly become conscious and alert again. There is a high risk of injury to the head and face, with some people wearing protective head gear. Children who have other seizure types may also have atonic seizures.

Myoclonic seizures are quite common in children with TSC. Myoclonic seizures look like a sudden shock or startle and can involve the whole body, one side of the body, the face or just one arm or leg. Seizures often happen just after waking or when tired, before going to bed.

Tonic-clonic seizures used to be described as a ‘grand mal’ attack. They are the type of seizure that most people think of when they hear the word ‘epilepsy’. Tonic-clonic seizures begins with a tonic (stiffening) phase, followed by a clonic (jerking) phase. The seizures usually last 2-3 minutes.

Antiepileptic drugs (AEDs, also called anticonvulsants) will not cure epilepsy but aim to prevent or reduce the number of future seizures. Many people with epilepsy will be prescribed an AED, but the types of epilepsy that occur in people with TSC can be difficult to control, with some AEDs working better than others for some people. Unfortunately, more than one in two people with TSC-related epilepsy will not respond to standard AEDs and may need an alternative form of treatment.

Treatments for TSC-related epilepsy include everolimus (brand name Votubia, available across all UK nations), and cannabidiol (brand name Epidyolex, recently approved for use in Wales and Scotland – more information here and here). We’re continuing to work with decision-makers in England in the push to get access to cannabidiol in England – but, the earliest we can hope for access in England is March 2023 at best (with Northern Ireland typically following decisions by England).

Finding the right medication and dosage to treat TSC-related epilepsy with an AED can take time, as it could involve trying several different drugs before the most effective one with the least side effects is identified for an individual. Sometimes, a combination of two AEDs is needed to achieve the best results.

The ketogenic diet involves the consumption of foods which have high fat, low carbohydrates and moderate protein. Ketogenic diets have been found to be potentially helpful for some people whose TSC-related epilepsy is difficult to control through medicine alone.

There are several variations of this diet, but all are based on the principle of using a strictly controlled diet to enable the body to produce ketones, a chemical that is thought to possibly reduce seizures.

The ketogenic diet is not effective for everyone and may result in a reduction or improvement in seizures. The diet requires commitment from the family and close supervision from a trained dietitian.

For a very small number of children and adults whose TSC-related epilepsy does not respond to antiepileptic medication, surgery could be an effective treatment option. There are a range of different surgical operations that might be suitable, depending on the circumstances of every individual.

One of the most common surgical option in epilepsy is called ‘resective surgery’, which involves removing an area of the brain which has abnormal nerve cells. Resective surgery is rarely performed in children with TSC-related epilepsy, as children with the condition often have more than one area of abnormal nerve cells in their brain.

Another option includes vagal nerve stimulation (VNS). VNS involves implanting a watch-sized electrical stimulator under the skin below the left collar-bone, with very thin wires (called electrodes) then leading to the vagus nerve, located in the neck. The electrical signal stimulates the nerve at regular intervals, which has been found to reduce the frequency and intensity of epileptic seizures.

Epilepsy surgery must be performed at designated epilepsy surgery centres in the UK, such as Children’s Epilepsy Surgery Service (CESS) centres.