Reflex myoclonic epilepsy in infancy: a multicenter clinical study

Alberto Verrotti, Sara Matricardi, Giuseppe Capovilla, Claudia D'Egidio, Raffaella Cusmai, Antonino Romeo, Dario Pruna, Piero Pavone, Silvia Cappanera, Tiziana Granata, Giuseppe Gobbi, Pasquale Striano, Salvatore Grosso, Pasquale Parisi, Emilio Franzoni, Salvatore Striano, Alberto Spalice, Raffaella Marino, Federico Vigevano, Giangennaro Coppola
Epilepsy Research 2013, 103 (2-3): 237-44

PURPOSE: To describe the clinical and electroencephalographic (EEG) features of reflex myoclonic epilepsy in infancy (RMEI) and long-term cognitive outcome.

METHODS: We enrolled 31 children from 16 neuropediatric centres in Italy, who underwent clinical and video-EEG evaluation. Cognitive assessment was performed in all patients using standardized psychometric tests.

RESULTS: The age at onset ranged from 3 to 24 months of age. Seizures were characterised in all patients by symmetric myoclonic seizures (MS), triggered by sudden unexpected acoustic (38.7%) or tactile stimuli (29%) or both (29%). Spontaneous attacks were reported in 32.2% of the cases. Ictal EEG showed generalized high-amplitude 3 Hz polyspike and wave discharges, synchronous with brief rhythmic bursts of electromyographic activity. Patients were re-evaluated after a period of 7.2 ± 5.6 years. The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children.

CONCLUSIONS: RMEI appears to be a variety of idiopathic generalized epilepsy with specific features that occurs in developmentally normal children.

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