According to a recent announcement, Epilepsy Research UK has announced a funding collaboration with the Tuberous Sclerosis Association which will support the investigation of tuberous sclerosis complex (TSC)-associated epilepsy.
Tuberous sclerosis complex is a rare genetic disease that causes noncancerous tumors to grow in many parts of the body.
Tuberous sclerosis complex is often detected during infancy or childhood. Some with tuberous sclerosis complex have mild symptoms that don’t lead to diagnosis until adulthood, while others experience serious hardships.
Symptoms:
Tuberous sclerosis complex symptoms include noncancerous tumors or other lesions that grow in many parts of the body, but most commonly in the brain, kidneys, heart, lungs, and skin.
Symptoms can range from mild to severe, including:
- Skin abnormalities, such as patches of light-colored skin, small areas of thickened skin, and growths under or around the nails.
- Facial lesions that resemble acne
- Seizures
- Developmental delays
- Behavior problems such as:
- Hyperactivity
- Raging outbursts
- Aggression
- Repetitive behaviors
- Social and emotional withdrawal
- Communication and social interaction problems
- Kidney issues
- Heart problems
- Lung problems
- Eye abnormalities
Epilepsy is a disorder of the central nervous system (CNS) that is characterized by abnormal brain activity. This activity has the potential to cause seizures, unusual sensations, strange behavior, and a loss of awareness.
Epilepsy can affect anyone, whether they are male or female, any age, or any race or ethnicity.
Symptoms:
Symptoms vary depending on the affected individual. There are different types of seizures, which bring their own symptoms.
One may have a focal seizure, meaning there is abnormal activity in only one portion of the brain. It is possible that one will not lose consciousness during this seizure, and they will experience abnormalities of their senses, tingling, flashing lights, dizziness, or an involuntary jerking of a body part. If consciousness is lost, people will not respond to stimuli and they will perform repetitive movements.
The other form of seizure is generalized seizures, which impact the entire brain. There are six types of seizure within this category: absence, tonic, atonic, clonic, myoclonic, tonic-clonic. Symptoms vary between them, with effects such as staring into space, subtle body movements, stiffening of muscles, falls, jerking muscle movements, loss of bladder control, biting the tongue, and loss of consciousness.
It is important to get help when having a seizure, as they can lead to complications. During a seizure it is possible to fall and injure oneself. If one is driving a car, there is a high risk of car accidents as well. Swimming or taking a bath both hold the risk of drowning due to a seizure. Complications may happen during pregnancies as well. People with epilepsy are also more likely to have emotional health issues. Other conditions may arise due to epilepsy, such as status epilepticus or sudden unexpected death in epilepsy (SUDEP).
The Collaboration
Around eight out of ten patients diagnosed with tuberous sclerosis complex (TSC) will also deal with epilepsy. For these patients, anti-epileptic medication does not work, and alternative treatments are required. That is why it is vital that more research is done looking into TSC-associated epilepsy to improve the outcomes of patients dealing with the condition.
Epilepsy Research UK has joined with the Tuberous Sclerosis Association (TSA) in an effort to find a future leader in TSC-associated epilepsy research. The funding will be used for a fellowship that will find this leader. This collaboration aims to improve multiple areas of epilepsy in TSC, including the diagnosis, treatment, and prevention of the condition.
