| Abstract [eng] |
Genetic generalized epilepsies affect approximately 15 million people worldwide. Seizures can range from generalized tonic-clonic seizures to absence seizures to myoclonic seizures. They can disrupt learning, memory, and social life and lead to potentially life-threatening consequences during certain activities. Subtypes of genetic generalized epilepsy include epilepsy with generalized tonic-clonic seizures alone, juvenile myoclonic epilepsy, childhood absence epilepsy, and juvenile absence epilepsy. This review evaluates the literature regarding functional neuroimaging in genetic generalized epilepsy, with a focus on electroencephalography and functional magnetic resonance imaging. Electroencephalography is the primary diagnostic tool. It can be combined with functional imaging techniques such as functional magnetic resonance imaging to investigate the mechanisms underlying genetic generalized epilepsy. Our understanding of the pathophysiology of genetic generalized epilepsies has considerably improved due to recent developments in functional magnetic resonance imaging. These discoveries have shown abnormal functional connectivity across subtypes, notably within functional networks of the brain. Epilepsy with generalized tonic-clonic seizures alone shows disruptions in the default mode network and motor-related areas. Juvenile myoclonic epilepsy involves the cortex-thalamo-striato-cerebellar network, default mode network, and salience network, while childhood absence epilepsy displays changes in the prefrontal-thalamocortical circuit and attention network. The limited research on JAE indicates some functional network alterations. To develop more accurate diagnostic criteria or identify potential therapeutic targets, there is a need for further research to fully understand the pathophysiology of these disorders. |
