Batten disease, also known as neuronal ceroid lipofuscinoses (NCLs), is a rare inherited neurodegenerative condition that is a type of lysosomal storage disorder. Loss of vision and seizures are among the earliest symptoms of this disease.
Seizures in Batten disease
Seizures occur in all types of Batten disease. Brain cells communicate with each other by sending electrical signals. These cells also send and receive signals to different parts of the body to control movements.
A seizure happens when brain cells suddenly start firing uncontrolled electrical signals, which can trigger other brain cells to send additional bursts.
Seizures can last from a few seconds to several minutes, and may appear as a person simply staring at a single point for a few seconds (absence seizures), or they can involve convulsions and full body shaking.
Different kind of seizures can occur in Batten disease. They range from mild ones, known as absence or petit mal seizures that last for 30 seconds, to seizures that require immediate medical attention like a generalized tonic-clonic or grand mal seizures.
Types of anticonvulsants
Anticonvulsants are a group of medicines commonly used to treat seizures in epilepsy, and are useful in controlling seizures in Batten disease.
Different classes of anticonvulsants work through different mechanisms. Depending on the type of seizure that the patient has, different anticonvulsants can be used. Many Batten disease patients, over the course of their disease, will be given more than one kind of anticonvulsant.
Ion channel modulators
The flow of positively or negatively charged small molecules, known as ions, through ion channels is essential for the transmission of electrical signals. Ion channel modulators prolong the inactive state of the ion channel after activation, reducing repetitive firing of neurons.
GABA potentiating agents
GABA is a signaling molecule in the brain that has an inhibitory effect on neurons. GABA acts by binding to GABA receptors. Anticonvulsants in this class operate either on GABA itself or its receptors to increase GABA’s inhibitory effect.
Some anticonvulsants act through multiple mechanisms of action, and other use mechanisms that are yet not fully understood.
Anticonvulsants for Batten disease
Valproic acid and levetiracetam are among the most commonly used anticonvulsants in juvenile NCL, the most common disease type whose symptoms typically appear between the ages of 5 and 15. However, studies assessing the effects of anticonvulsants in treating seizures in Batten disease patients are very limited.
Common side effects of anticonvulsants include sedation and other cognitive impairments, tremor, and gastrointestinal problems. Effects on body weight and metabolism are less common. Toxicity toward the skin, bone marrow, and liver are rare, but can occur and be severe.
Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.