Patients & Families

Epilepsy

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

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.

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