Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy

Ferdinanda Annesi, Antonio Gambardella, Roberto Michelucci, Amedeo Bianchi, Carla Marini, Maria Paola Canevini, Giuseppe Capovilla, Maurizio Elia, Daniela Buti, Rosanna Chifari, Pasquale Striano, Francesca E. Rocca, Barbara Castellotti, Francesco Cali, Angelo Labate, Emilio LePiane, Dante Besana, Vito Sofia, Giulietta Tabiadon, Gaetano TortorellaPiernanda Vigliano, Aglaia Vignoli, Francesca Beccaria, Grazia Annesi, Salvatore Striano, Umberto Aguglia, Renzo Guerrini, Aldo Quattrone

Research output: Contribution to journalArticlepeer-review


Objectives: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene. Materials and Methods: Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers. Results: Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G→A (resulting in the amino acid substitution R182 H) cosegregated with JME. Conclusions: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.

Original languageEnglish
Pages (from-to)1686-1690
Number of pages5
Issue number9
Publication statusPublished - Sep 2007


  • EFHC1
  • Genetics
  • Juvenile myoclonic epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


Dive into the research topics of 'Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy'. Together they form a unique fingerprint.

Cite this