Article
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Epilepsia - 1 Sept 2007
Annesi Ferdinanda, Gambardella Antonio, Michelucci Roberto, Bianchi Amedeo, Marini Carla, Canevini Maria Paola, Capovilla Giuseppe, Elia Maurizio, Buti Daniela, Chifari Rosanna, Striano Pasquale, Rocca Francesca E, Castellotti Barbara, Cali Francesco, Labate Angelo, LePiane Emilio, Besana Dante, Sofia Vito, Tabiadon Giulietta, Tortorella Gaetano, Vigliano Piernanda, Vignoli Aglaia, Beccaria Francesca, Annesi Grazia, Striano Salvatore, Aguglia Umberto, Guerrini Renzo, Quattrone Aldo
Abstract excerpt
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...
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