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Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy |
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| Authors: | 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 |
| Affiliation: | Institute of Neurological Sciences, National Research Council, Mangone–Cosenza;;Institute of Neurology, University Magna Graecia Catanzaro;;Division of Neurology, "Bellaria" Hospital, Bologna;;Division of Neurology, Ospedale "S. Donato" Arezzo, Arezzo;;Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Pisa;;Epilepsy Center, "S. Paolo" Hospital, Milano;;Epilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, Mantova;;Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Enna;;Division of Child Neurology, Meyer Hospital, Firenze;;Center for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," Milano;;Epilepsy Center, Department of Neurological Sciences, "Federico II" University, Napoli;;Laboratory of Human Genetics, Neurological Institute "C. Besta," Milano;;Regional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio Calabria;;Division of Infantile Neuropsychiatry, Civil Hospital, Alessandria;;Institute of Neurology, University of Catania, Catania;;Division of Neurology, Hospital of Bolzano, Bolzano;;Division of Infantile Neuropsychiatry, University of Messina, Messina;;and Division of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy |
| Abstract: | Summary: 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. |
| Keywords: | Juvenile myoclonic epilepsy Genetics EFHC1 |
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