[wpml_language_selector_widget]

Diagnosis

DEEs are accompanied by a variety of seizure types. Every person’s seizure experience is different; however, a patient with a given type of DEE will tend to have a cluster of symptoms and features that typically occur together – an epilepsy syndrome.1 Some of these include:

  • Developmental and Epileptic Encephalopathy with Spike and Wave Activation in Sleep (DEE-SWAS)
  • Early infantile Epileptic Encephalopathy (EIDEE)
  • Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)
  • Epilepsy with myoclonic-atonic seizures (EMAS)
  • Dravet Syndrome
  • Febrile Infection-Related Epilepsy Syndrome (FIRES)
  • Landau-Kleffner Syndrome (LKS)
  • Lennox Gastaut Syndrome (LGS)
  • Tuberous Sclerosis Complex

Assessment of seizure activity may involve several types of testing in order to reach a diagnosis of a specific DEE:1

  • Determining the seizure types and frequency
  • Magnetic Resonance Imaging (MRI)
  • Positron Emission Tomography (PET)
  • Genetic testing
  • Sleep and Wake Electroencephalogram (EEG) and or Video Electroencephalogram Monitoring (VEM)
  • Genetic testing
  • Identifying other conditions that impact development, learning, and everyday living

Researchers continue to study a person’s genes to help determine which type of DEE a person may have. This knowledge is an important consideration in choosing a therapy option that may be most effective. Currently, several genes have been identified that show specific correlations to particular types of DEEs. The use of new treatments that target the underlying mechanisms provides hope for disease modification that will improve both physical seizure events, as well as the developmental outcomes of affected children.2

References

  1. Epilepsy Foundation. Developmental and Epileptic Encephalopathy. Accessed August 23, 2024. https://epilepsyfoundation.org.au/understanding-epilepsy/rare-and-genetic-epilepsies/developmental-and-epileptic-encephalopaphy/
  2. Syrbe S. Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing. Med Genet. 2022;34:215-224. doi:10.1515/medgen-2022-2145

Pin It on Pinterest

Scroll to Top

You are now leaving the THRIVE site

The THRIVE Neuroscience Community of Care site is funded by an independent medical education grant from Jazz Pharmaceuticals. The following site is not affiliated with the THRIVE educational initiative and MLG is not responsible for its content.

For optimized Clinical Trial Tracker use, please utilize Chrome or Firefox browsers