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Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Ferdinanda Annesi
1 ,
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 Tortorella ,
Piernanda Vigliano ,
Aglaia Vignoli ,
Francesca Beccaria ,
Grazia Annesi ,
Salvatore Striano ,
Umberto Aguglia ,
Renzo Guerrini ,
Aldo Quattrone
Sep 2007
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Abstract
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.