Epilepsy with myoclonic absence (EMA), also known as Tassinari's syndrome is a rare childhood generalized epilepsy syndrome. 
Historical Note: First described by Tassinari et al. in 1969.

  • Clinical Data Overview:
    • Male preponderance (70%) contrasting with childhood absence epilepsy (CAE) with female preponderance (60–70%).
    • Etiological factors present in 35% of cases: prematurity, perinatal damage, consanguinity, congenital hemiparesis, chromosomal anomalies.
    • Family history of generalized epilepsy in ~20% of cases.
    • Mean age of onset: 7 years (range: 11 months to 12 years 6 months).
    • Mental retardation in 45% of cases.
    • Neuroimaging abnormalities in 17%.
  • Clinical Features of Myoclonic Absences (MA):
    • Variable impairment of consciousness.
    • Severe bilateral myoclonic jerks affecting shoulders, arms, legs.
    • Facial myoclonias involving chin and mouth; rare eyelid twitching.
    • Progressive tonic contraction elevating upper limbs, causing stereotyped movements.
    • Falls uncommon; backward/forward body oscillation common.
    • Jerky head/body deviation without ocular involvement.
    • Autonomic symptoms: respiratory arrest/changes, urinary incontinence.
    • Abrupt seizure onset/termination, duration 10–60 seconds, frequency several to tens per day.
    • Triggered by hyperventilation, drowsiness, intermittent photic stimulation (14% cases).
    • Status epilepticus rare.

  • Associated Seizure Types:
    • 1/3 cases experience only MA seizures.
    • 2/3 cases experience other seizures:
      • Preceding seizures (38%): simple absences, rare generalized tonic–clonic seizures (GTCS), clonic seizures.
      • Concurrent seizures: GTCS (45%), simple absences (4%), sudden falls (33%), absence status without myoclonias (17%), status epilepticus with rhythmic myoclonias (rare).
      • Multiple seizure types in 10% cases.
  • Neurophysiological Data:
    • Interictal EEG:
      • Normal awake EEG background.
      • No posterior sinusoidal slow rhythm typical of CAE.
      • Generalized spike-and-wave (SW) in 1/3 cases, rarely with focal/multifocal anomalies.
      • No effect from photic stimulation except in provoking MA.
      • Sleep EEG: normal sleep organization, frequent isolated spikes or irregular SW (anterior regions), no 10 Hz fast rhythm bursts typical of Lennox-Gastaut syndrome.
      • Generalized SW discharges in sleep stage II, sometimes with myoclonias.
    • Ictal EEG and Polygraphic Semiology:
      • Rhythmic, bilateral, synchronous, symmetrical 3 Hz SW discharges (similar to CAE).
      • Abrupt seizure onset/end; occasionally asymmetric delta waves at termination.
      • EMG shows rhythmic bilateral synchronous myoclonias matching SW frequency, appearing ~1 second after EEG discharge onset.
      • Tonic muscle contraction maximal in shoulders/deltoids elevating arms, potentially obscuring clinical myoclonias.
      • Occasional unilateral/asymmetric myoclonias despite generalized EEG pattern.
      • Constant spike-myoclonia correlation: spike latency 15–40 ms (proximal), 50–70 ms (distal muscles).
      • Myoclonia followed by brief silent period (60–120 ms), interrupting tonic contraction.
      • MA less pronounced in light sleep; absent during deep and REM sleep.
  • Evolution and Prognosis:
    • Median follow-up 13 years 2 months (range 3 years 4 months–29 years) in 40 patients.
    • Two outcome groups:
      • Group 1 (37.5%): MA seizures resolved.
      • Group 2 (62.5%): persistent MA or evolved to cryptogenic/symptomatic epilepsy resembling Lennox-Gastaut syndrome.
    • Poor prognosis linked with associated GTCS, severe psychomotor retardation, and behavioral disturbances.
    • Medication efficacy inconsistent; phenytoin or carbamazepine associated with worse outcomes.
  • Diagnosis:
    • Primarily relies on polygraphic (EEG + EMG) recordings showing 3 Hz SW discharges associated with rhythmic myoclonias.
    • Differentiation from similar seizure types: generalized clonic seizures, mild clonic absences, partial motor seizures, atypical MA, MA with chromosomal abnormalities, diffuse epileptic encephalopathies.
    • Polygraphic confirmation essential due to potential subtlety or reduced clinical intensity of myoclonias over time.
  • Treatment:
    • Primary treatment involves cotherapy with sodium valproate (VPA) and ethosuximide (ESM).
    • Combination therapy of phenobarbital, VPA, and benzodiazepines effective in some cases.
    • Lamotrigine combined with VPA or ESM beneficial in resistant cases.
    • Potential role for levetiracetam, topiramate, or zonisamide yet to be fully established.

  • Further Reading

    • Tassinari CA, Lyagoubi S, Santos V, Gambarelli F, Roger J, Dravet C, et al. Etude des de´charges de pointes ondes chez l’homme. II: Les aspects cliniques ee´lectroence´phalographiques des absences myocloniques. Rev Neurol 1969;121:379–83
    • Bureau, M., & Tassinari, C. A. (2005). Epilepsy with Myoclonic absences. Brain and Development, 27(3), 178–184. https://doi.org/10.1016/j.braindev.2004.01.008