No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy

Laura Mumoli, Patrizia Tarantino, Roberto Michelucci, Amedeo Bianchi, Angelo Labate, Silvana Franceschetti, Carla Marini, Pasquale Striano, Monica Gagliardi, Edoardo Ferlazzo, Vito Sofia, Loredana Pennese, Grazia Annesi, Umberto Aguglia, Renzo Guerrini, Federico Zara, Antonio Gambardella

Research output: Contribution to journalArticlepeer-review


Summary Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, but so far, genes related to JME remain largely unknown. JME shares electroclinical features with Unverricht-Lundborg disease (progressive myoclonic epilepsy type 1; EPM1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration. EPM1 is caused by mutations in the gene that codes for cystatin B (CSTB), an inhibitor of cysteine protease. In the present study, we wished to investigate the role of the CSTB gene in patients with JME. Fifty-seven unrelated patients (35 women; mean age ± standard deviation [SD], 24.1 ± 7.7; mean age ± SD at onset, 15.3 ± 2.4) with JME were enrolled. Twenty-three of 57 patients were the probands of families with JME. The molecular diagnosis was carried out to identify the common dodecamer repeat expansion mutation or other disease-causing mutations in the CSTB gene. The molecular analysis did not depict mutations in any of the 57 patients with JME. Our study did not support a role for the CSTB gene in patients with familial or sporadic JME.

Original languageEnglish
Pages (from-to)e40-e43
Issue number4
Publication statusPublished - Apr 1 2015


  • Cystatin B gene
  • EPM1
  • Genetics
  • Juvenile myoclonic epilepsy
  • Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)


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