Epileptic Disorders


How to diagnose and classify idiopathic (genetic) generalized epilepsies Volume 22, issue 4, August 2020


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1 Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey
2 Service de Neurologie Pédiatrique, Hôpital Robert Debré, Paris, France
3 Université de Paris, INSERM U1141, F-75019, Paris, France
4 Clinic for Children and Adolescents, Epilepsy Center Kork, Tuberous Sclerosis Center, Kehl-Kork, Germany
5 Medical Faculty of the University of Freiburg, University of Freiburg, Germany
6 Danish Epilepsy Center, Filadelfia, University of Copenhagen, Dianalund, Denmark
7 Guy's and St Thomas’ NHS Foundation Trust, London, UK
* Correspondence: Ayse Deniz Elmali Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey

Idiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well-defined group that accounts for almost one third of all people with epilepsy. They consist of four well-established syndromes and some other rarer phenotypes. The main four IGEs are juvenile myoclonic epilepsy, childhood absence epilepsy, juvenile absence epilepsy and IGE with generalized tonic-clonic seizures alone. There are three main seizure types in IGE, namely generalized tonic-clonic seizures, typical absences and myoclonic seizures, occurring either alone or in any combination. Diagnosing IGEs requires a multidimensional approach. The diagnostic process begins with a thorough medical history with a specific focus on seizure types, age at onset, timing and triggers. Comorbidities and family history should be questioned comprehensively. The EEG can provide valuable information for the diagnosis, including specific IGE syndromes, and therefore contribute to their optimal pharmacological treatment and management.

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