Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy

Idiopathic generalized epilepsies (IGEs) are a common group of genetic generalized epilepsies, which account for 15% to 20% of all epilepsies [14]. It is characterized by generalized epileptic seizures, including absence, myoclonic, generalized tonic-clonic, and myoclonic-tonic-clonic seizures, generalized spike/polyspike-slow waves on EEG, and good prognosis with normal neurodevelopment. Generally, the IGEs comprise four syndromes, including childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (GTCA) [12].

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