About Epilepsy

Epilepsy is a neurological condition that is categorized as a seizure disorder. There are many types of epilepsy syndromes based on the symptoms, age, causes of the seizures, and the severity of the seizures. There are no approved treatments for some types of epilepsy syndromes, but right now the Kayak Study is underway on investigational medications for the following types of epilepsy.

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About SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE)1

A mutation in the SCN8A gene can lead to epilepsy and seizures. The most common seizure types that occur with this mutation include tonic-clonic seizures (the muscles stiffen, and jerking movements are seen2), myoclonic seizures (brief, shock-like jerks to a muscle3), and absence seizures (lapse of awareness4). Tonic seizures (where the body stiffens for a short period of time), atonic seizures (where the body goes limp for a short period of time and falls can occur), and focal (a.k.a. partial) seizures can also occur. The seizures that occur with SCN8A-DEE can be frequent, can occur multiple times a day, and are often resistant to treatment. This is why clinical trials and participant volunteers are important to finding potential new treatment options.

References

  1. epilepsy.com/learn/epilepsy-due-specific-causes/specific-genetic-epilepsies/scn8a-related-epilepsy
  2. epilepsy.com/learn/types-seizures/tonic-clonic-seizures
  3. epilepsy.com/learn/types-seizures/myoclonic-seizures
  4. epilepsy.com/learn/types-seizures/absence-seizures