Epilepsy With Myoclonic Absences

Etiologies: considering the genetic correlation (some may involve complex polygenic genetic patterns, in addition, it is reported that the variation of SYNGAP1 gene can also lead to the syndrome, and some often related to chromosome abnormalities), about 20% have a family history of epilepsy [1].

Age of onset: onset of seizures generally from age 1 to 12 years (peak 7 years).

Seizure characteristics: Male predominance (about 70%), with frequent myoclonic absence seizures, and some can also have general tonic clonic seizures or atonic seizures [2-3].

EEG: Background: normal. Interictal: generalized spike-and-wave discharges can occur, and often becomes fragmented in sleep. Ictal: it can show the outbreak of 3-Hz generalized spike-and-wave (there is a constant relationship between the myoclonic jerks and spike-and-waves) [2-3].

Brain MRI: most of the ordinary MRI were basically normal, and some showed mild nonspecific diffuse brain atrophy.

Developmental progress: some are basically normal, and some have certain cognitive and behavioral disorders (which are also related to the seizure control).

Reference