Juvenile Absence Epilepsy

Etiologies: It is considered to be related to genetic factors (it may involve complex/polygenic inheritance, some of which are related to gene variations such as GABRG2、CACNA1A. In addition, microdeletion of some chromosomes, such as 15q13.3 microdeletion syndrome can also be related to it)[1-2].

Age of onset: onset of seizures generally from age 8 to 20 years (peak 10 to 12 years).

Seizure characteristics: frequent and typical absence seizures (the seizure frequency and degree of consciousness damage can be less than that of childhood absence epilepsy, but the time of each seizure can be longer), and there can be generalized tonic clonic seizures or scattered myoclonic seizures in some later stages [3-4].

EEG: Background: normal, sometimes occipital intermittent rhythmic delta activity (OIRDA) may be seen. Interictal: there may be generalized spike-and-wave, with significant anterior head, and fragmented and localized discharge during sleep. Ictal: 3-5Hz generalized spike-and-wave burst can be seen [3-4].

Brain MRI: Most of them are normal.

Developmental progress: Most of them are basically normal, and some of them may have certain attention deficit hyperactivity disorder and learning difficulties.

Reference

1. International League Against Epilepsy. juvenile absence epilepsy (Accessed March 14, 2021).
2. Dibbens, L.M., et al., Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet, 2009. 18(19): p. 3626-31.
3. Panayiotopoulos.  癫痫综合征及临床治疗.  北京 : 人民卫生出版社, 2012.
4. 刘晓燕.  临床脑电图学. 第2版.  北京 : 人民卫生出版社, 2017.