Epilepsy in TSC:

Epilepsy is by far the most common medical condition in TSC, occurring in 80-90% of patients. In about one third of the patients, epilepsy starts out as infantile spasms. Peak onset occurs at about 4-6 months. They rarely occur before 2 weeks and after 18 months of life.

Infantile spasms are characterized by brief, but often repetitive, muscle contractions usually involving the head, trunk and extremities. The spasms often occur in clusters. There is usually crying associated with these spells. Often, the children may look like they have colic or an abdominal problem. They occur frequently upon awakening. The EEG often shows "hypsarythymia" (high voltage i.e. 300-400mV, chaotic, multifocal spikes and slow waves). However, it is important to remember that you can have hypsarrhythmia without infantile spasms and infantile spasms without hypsarrhythmia.

Infantile spasms can be treated with several antiepileptic medications. In patients with TSC who have infantile spasms, vigabatrin has been shown to be particularly effective. Another choice is ACTH (adrenocorticotrophic hormone).

Patients with TSC can develop partial or generalized seizures. Depending on the seizure type, there are multiple anti-epileptic medications that are used. If the seizures are intractable despite the use of anti-epileptic medications, epilepsy surgery can be an option.