Idiopathic generalized epilepsies recognized by the International League Against Epilepsy.
There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only. All of these syndromes can be easily diagnosed when distinctive features are present. In some cases, such features are not present or only appear later in the course of the disease, making it challenging to distinguish the various syndromes. Electroencephalogram (EEG) is the most helpful laboratory test and often will strongly support the diagnosis of IGE, but may not be very helpful in discriminating between several of the syndromes with overlapping features. The same applies for genetic testing, although it is expected that further research exploring the genotype-phenotype relationships will enhance our abilities to make definitive diagnoses. At the current time, clinical features are still the cornerstone of accurate classification, and accurate classification, in turn, is the best predictor of outcome.
Nordli
Douglas R
DR
Children's Memorial Hospital, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA. dnordli@childrensmemorial.org
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004569:Electroencephalography / Q000706:statistics & numerical data*; D004829:Epilepsy, Generalized / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D007390:International Agencies / Q000592:standards*; D008297:Male; D010641:Phenotype; D013577:Syndrome