ENGIN Conditions We Treat

ENGIN Conditions We Treat

The Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia evaluates and cares for children with difficult-to-treat or unexplained epilepsies, genetic epilepsy syndromes and other genetic neurodevelopmental disorders. Conditions we treat include the following.

Making a referral to the Epilepsy Neurogenetics Initiative for unexplained epilepsies

Any child with unexplained or difficult-to-treat epilepsy is eligible for referral to CHOP’s ENGIN Clinic. Reasons for referral may include:

  • Difficult to control (intractable) seizures
  • Seizures with no explanation found on brain MRI
  • Family history of epilepsy or seizures
  • Developmental delay
  • Autism spectrum disorder
  • Certain brain malformations

Second opinions for established diagnoses of genetic seizure disorders

If your child or patient has an established genetic diagnosis such as a genetic epilepsy syndrome, and you are seeking a second opinion or more information about what the diagnosis means, we can arrange a comprehensive evaluation and genetic counseling session with an attending neurologist and genetic counselor.

Conditions we treat include the following:

Genetic epilepsies and neurodevelopmental disorders

Approximately 100 unique genetic causes have been identified so far that can lead to epilepsy. ENGIN researchers have been involved in the discovery and characterization of many of these genetic epilepsy syndromes. We have particular expertise and familiarity with the complex medical needs and comprehensive care that are often required for these conditions and are actively engaged in research to advance our understanding and treatment approaches for these conditions.

Some examples of genetic epilepsy syndromes we treat include:

Developmental and epileptic encephalopathy

Developmental and epileptic encephalopathies (DEEs) are rare epilepsy syndromes that are characterized by seizures, behavioral and developmental differences, and EEG abnormalities. These syndromes involve delays or impairment in development or loss of previously achieved developmental skills. Seizures in these epilepsy syndromes are often resistant to anti-seizure medications. Genetic causes can be identified in up to 50% of children with developmental and epileptic encephalopathies.

Examples of developmental and epileptic encephalopathies include:

  • Dravet syndrome
  • Epileptic encephalopathy with electrical status epilepticus in sleep (ESES)
  • Epilepsy of infancy with migrating focal seizures
  • Epilepsy with myoclonic-atonic seizures (also known as Doose syndrome or myoclonic-atonic epilepsy)
  • Landau-Kleffner syndrome
  • Lennox-Gastaut syndrome
  • Ohtahara syndrome
  • West syndrome/infantile spasms

Focal epilepsy

Focal epilepsies involve seizures that originate within one hemisphere of the brain. These epilepsies may or may not be associated with underlying structural brain abnormalities. Focal-onset seizures may be associated with retained awareness or impaired awareness (formerly called complex partial seizures). The clinical signs and symptoms a person experiences during a focal seizure depend on the region of the brain where the seizure arises. Some types of focal epilepsy are inherited or run in families.

Examples of focal epilepsy syndromes include:

  • Childhood epilepsy with centrotemporal spikes (also called benign rolandic epilepsy)
  • Childhood occipital epilepsy
  • Frontal lobe epilepsy
  • Panayiotopoulos syndrome
  • Temporal lobe epilepsy

Genetic/idiopathic generalized epilepsy

Genetic/idiopathic generalized epilepsies are common epilepsy syndromes that typically begin in childhood or adolescence and are associated with seizures originating from both sides of the brain (generalized seizures) and generalized EEG patterns such as generalized spike-wave activity. These forms of epilepsy are thought to be genetically determined.

Genetic/idiopathic generalized epilepsy syndromes include:

  • Childhood absence epilepsy
  • Epilepsy with generalized tonic-clonic seizures alone
  • Juvenile absence epilepsy
  • Juvenile myoclonic epilepsy
  • Jeavon’s syndrome (also known as epilepsy with eyelid myoclonias)

Febrile seizures

Febrile seizures are the most common seizures in children. They occur in the context of a high fever, typically in infants and young children, and are not considered epileptic seizures. Although simple febrile seizures are not considered epilepsy, febrile seizures may have a genetic component if they are prolonged, have focal features, cluster or recur, or continue past the age when febrile seizures typically remit. Children with febrile seizures may have a family history of fever-related seizures in other family members, which may be consistent with the familial epilepsy syndrome genetic epilepsies with febrile seizures plus (GEFS+).

Progressive myoclonus epilepsy

Progressive myoclonus epilepsies are a group of rare genetic epilepsy syndromes characterized by myoclonus and seizures, with worsening of symptoms over time. Myoclonus is typically treatment resistant and results in progressive impairment of motor functioning. Many forms of progressive myoclonus epilepsy are genetic.

Progressive myoclonus epilepsies include: