Epileptic Encephalopathy with Continuous Spike-and-Wave During Sleep (EE-CSWS)
Epileptic Encephalopathy with Continuous Spike-and-Wave During Sleep (EE-CSWS) is a rare pediatric epilepsy. Typical onset occurs between ages 2 and 4 years old with seizures occurring infrequently. Diagnosis of EE-CSWS is based on a unique electroencephalographic (EEG) pattern for electrical status epilepticus in sleep (ESES), together with cognitive stagnation and regression.
EE-CSWS impacts less than 2% of the children living with epilepsy worldwide. There is currently no approved treatment for the disorder.
SCN8A-DEE is a rare disorder that causes a range of symptoms including severe epilepsy, developmental delay, and other medical challenges and is highly refractory to currently available antiseizure medication. SCN8A-DEE is linked to gain of function mutations in the SCN8A gene, a gene that affects how brain cells function. Mutations on this gene can cause neurological problems including epilepsy, intellectual disabilities, movement disorders, and impaired development.
SCN8A-DEE is rare, with less than 1,000 patients believed to be diagnosed with the disorder worldwide. There are currently no approved therapies for this form of pediatric epilepsy.
Focal Onset Seizures
Focal onset or partial seizures are limited to one area of the brain and are the most common form of seizures in adults. Focal onset seizures can last up to two minutes and can involve involuntary movements and be associated with impaired awareness.
More than 45 million people live with active epilepsy worldwide, with more than half of those living with focal seizures.
Essential tremor is one of the most common movement disorders, with an estimated 7 million people living with essential tremor in the U.S. alone. It affects approximately 5% of adults aged 65 or older. Essential tremor begins gradually, often affecting the upper limbs (but can affect the head, voice and legs), and commonly runs in families. It involves involuntary and rhythmic shaking of the limbs and other body parts during movement that can impact activities of daily living, including eating, drinking, writing, and dressing. Essential tremor may be mistaken for tremor in Parkinson’s disease, and can be aggravated by emotional stress, fatigue, or substances like caffeine.
Beta-blockers or anti-seizure medications are often used to treat essential tremor. However, many patients become resistant to these therapies over time. The only approved medication for essential tremor was approved in the 1970s.