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.

Severe childhood epilepsies (developmental and epileptic encephalopathy): Severe epilepsy syndromes that manifest in infancy or early childhood and are associated with treatment-resistant seizures, active epileptiform EEG activity, and cognitive and behavioral impairment. These include:

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

Familial epilepsy: Any child with epilepsy with a positive family history of seizures. This may include the following:

  • Self-limited neonatal seizures (also known as benign familial neonatal seizures)
  • Self-limited infantile seizures (also known as benign familial infantile seizures)
  • Genetic epilepsy with febrile seizures plus (GEFS+)

Focal epilepsy: Epilepsy syndromes associated with seizures originating from one hemisphere of the brain. These epilepsies may or may not be associated with underlying structural brain abnormalities.

Idiopathic generalized epilepsy (IGE): Common epilepsy syndromes typically beginning in childhood or adolescence, characterized by generalized seizure types, generalized discharges on EEG, and thought to be genetically determined.

  • Childhood absence epilepsy
  • Juvenile absence epilepsy
  • Juvenile myoclonic epilepsy
  • Jeavon’s syndrome (also known as epilepsy with eyelid myoclonias)

Progressive myoclonus epilepsy: A group of rare genetic epilepsy syndromes characterized by myoclonus and seizures, with worsening of symptoms over time.

  • Unverricht-Lundborg disease
  • Lafora disease
  • Myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK)

Genetic epilepsies and neurodevelopmental disorders: Any known genetic diagnosis or identified or suspected pathogenic variant in any of the 100+ epilepsy-associated genes, including the following.

  • Dravet syndrome or SCN1A-related epilepsies
  • SCN2A
  • SCN8A
  • KCNQ2
  • STXBP1
  • PCDH19
  • PRRT2
  • KCNT1
  • DNM1
  • KCNA2
  • GABRG2
  • And more