Teaching Video NeuroImages: epilepsy with myoclonic absences: a distinct electroclinical syndrome.

A 10-year-old girl presented with recurrent absence spells of 6 years’ duration. Video-EEG revealed absences with rhythmic unilateral shoulder jerks, classic of epilepsy with myoclonic absences (EMA) (videos 1 and 2 on the Neurology Web site at www.neurology.org; figure). The average age at onset is 7 years.1 EMA may be associated with trisomy 12p and Angelman syndrome.2 It has a variable prognosis; cognitive deterioration occurs proportionate to duration of intractable epilepsy. Seizures persist into adulthood in approximately 50% of cases. While a valproate–ethosuximide combination is best, alternatives include valproate with benzodiazepines, phenobarbital, and lamotrigine.1 Video-EEG correlation is recommended to differentiate it from childhood absences and eyelid/ perioral myoclonia with absences. Presence of focal semiology should not deter the diagnosis of this distinct generalized epilepsy syndrome.