Paroxysmal movement disorders in severe myoclonic epilepsy in infancy

Yoko Ohtsuka, Iori Ohmori, Tatsuya Ogino, Mamoru Ouchida, Kenji Shimizu, Eiji Oka

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


We report on the electroclinical findings and the results of a molecular genetic study of a patient with typical severe myoclonic epilepsy in infancy (TSME) and three with borderline SME (BSME) who showed paroxysmal movement disorders, such as choreoathetosis, dystonia and ballismus, during their clinical course. BSME was defined as a clinical entity that shares common characteristics with TSME but lacks myoclonic seizures associated with ictal EEG changes. When the paroxysmal movement disorders were first observed, all the patients in this study were being treated with polytherapy including phenytoin (PHT), and these abnormal movements disappeared when PHT was discontinued or reduced. However, on other occasions, two of our cases also showed the same abnormal movements even when not being treated with PHT. One patient with TSME and two of the three patients with BSME had SCN1A gene mutations that lead to truncation of the associated protein. We conclude that paroxysmal movement disorders seen in SME patients were closely related to their AED therapy, especially the use of PHT. It is thought that patients with both TSME and BSME have some predisposition toward paroxysmal movement disorders, and that this predisposition is partly related to sodium channel dysfunction, although some other factors might influence the occurrence of this phenomenon.

Original languageEnglish
Pages (from-to)401-405
Number of pages5
JournalBrain and Development
Issue number6
Publication statusPublished - Sep 2003


  • Antiepileptic drug
  • Paroxysmal movement disorder
  • Phenytoin
  • SCN1A mutation
  • Severe myoclonic epilepsy in infancy
  • Sodium channel

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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