Severe myoclonic epilepsy of infancy or dravet syndrome

Carla Marini, Renzo Guerrini

Research output: Chapter in Book/Report/Conference proceedingChapter


There were several reports in Japan on cases that had characteristic features of what is now called benign adult familial myoclonic epilepsy (BAFME). They were eight cases of hereditary tremor with epileptic seizure in a family over four generations (Inoue1975), three families who had grand mal seizures and hereditary tremor (Takahashi et al. 1969), 101 cases in a single family over five generations (Wakeno 1975), and 40 cases out of 103 affected members of 12 families giving the term “familial essential myoclonus and epilepsy” (FEME) (Inazuki et al. 1990). Electrophysiological studies on these patients revealed giant somatosensory evoked potential with enhanced long-loop C-reflexes via cortex, and premovement cortical spikes by the jerk-locked averaging method suggesting that involuntary tremor or movements were a form of cortical reflex myoclonus (Ikeda et al. 1990; Okino 1997). The term benign adult familial myoclonic epilepsy came from the study on 26 members of two families (Yasuda 1991). Genetic analysis of his patients later gave rise to the discovery of the BAFME gene. A report of a European family revealed similar symptoms such as cortical tremor, epilepsy, and mental retardation inherited in an autosomal dominant pattern (Elia et al. 1998). All four living patients examined were non-progressive. All patients showed diffuse spike–wave complexes on electroencephalogram (EEG), a photoparoxysmal response, giant somatosensory evoked potential, enhanced C-reflex, and premyoclonic spike on jerk-locked averaging methods.

Original languageEnglish
Title of host publicationThe Causes of Epilepsy: Common and Uncommon Causes in Adults and Children
PublisherCambridge University Press
Number of pages7
ISBN (Print)9780511921001, 9780521114479
Publication statusPublished - Jan 1 2011

ASJC Scopus subject areas

  • Medicine(all)


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