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
- And more