Anti-seizure medications are usually the first line of treatment for epilepsy, but controlling seizures related to DEEs can be particularly difficult. The type of treatment varies significantly based on a patient’s underlying condition. Immune and hormonal therapies are at the forefront of treatment in many cases, with traditional antiepileptic drugs and surgery (when an identifiable lesion is present) playing a more limited role.1 Treatment for DEEs are highly specific and based on the individual condition present. For example, the therapeutic effects of a treatment can be specific for certain developmental periods when it can modify its desired targets (eg, neonatal estradiol given to prevent interneuronopathy in epileptic spasms).2 Ultimately, gold-standard treatment evidence for these conditions remains limited and elusive.
Accurately diagnosing the cause and specific type of DEE can better help to determine the most appropriate treatment. Treatment and management options for DEEs may include:3
The availability of genetic testing has been a big step toward tailoring treatment to a specific DEE condition. For example, patients with infantile spasms associated with trisomy 21 may benefit from adrenocorticotropic hormone; patients with infantile spasms related to GLUT1 deficiency may benefit from a ketogenic diet; and vigabatrin may be considered as initial therapy in infantile spasms associated with tuberous sclerosis complex.1 The neurosteroid ganaxolone was approved in 2022 for the management of seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged 2 years and older. And there is an FDA-approved cannabidiol approved for children 1 year of age and older with Dravet syndrome, Lennox-Gastaut syndrome, or tuberous sclerosis complex.
Yes, it is, but despite the availability of multiple medications for management of epilepsy, seizure freedom becomes increasingly unlikely with use of further lines of therapy. Although first-line therapy in one study successfully controlled seizures in 45.7% of cases, second-line, and third-line therapy led to seizure freedom in only 11.6% of patients and 4.4% of patients, respectively.4 Moreover, in adults with undiagnosed DEEs, outcomes may be limited by a lack of a specific genetic diagnosis.5
Abundant evidence suggests suboptimal use of antiseizure medications in practice, indicating a need for improving use of medication in epilepsy, including DEEs. In a claims-based study including more than 60,000 individuals, more than one-third (36.7%) of patients with newly diagnosed epilepsy were untreated over 3 years of follow-up. Insufficient use of anti-epileptic medications in these patients was associated with a higher rate of medical events, hospitalizations, and emergency department visits, indicating a gap in the application of available therapies even in patients with a definitive diagnosis.6,7
Jazz Pharmaceuticals Global Medical Affairs. Access our Medical Resources Library. Accessed 9/26/2024. https://www.jazzmedical.com/
