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Your search keyword '"LePiane E"' showing total 2 results
Start Over Author "LePiane E" Topic mutation, missense
2 results on '"LePiane E"'

1. Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.

Author

Annesi G, Gambardella A, Carrideo S, Incorpora G, Labate A, Pasqua AA, Civitelli D, Polizzi A, Annesi F, Spadafora P, Tarantino P, Cirò Candiano IC, Romeo N, De Marco EV, Ventura P, LePiane E, Zappia M, Aguglia U, Pavone L, and Quattrone A

Subjects
Epilepsy, Generalized complications, Female, Humans, Male, NAV1.1 Voltage-Gated Sodium Channel, Seizures, Febrile complications, Epilepsy, Generalized genetics, Mutation, Missense genetics, Nerve Tissue Proteins genetics, Seizures, Febrile genetics, Sodium Channels genetics
Published
2003
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2. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy

Author

Annesi, F., Gambardella, A., Michelucci, R., Bianchi, A., Marini, C., Canevini, M. P., Capovilla, G., Elia, M., Buti, D., Chifari, R., Striano, Pasquale, Rocca, F. E., Castellotti, B., Cali, F., Labate, A., Lepiane, E., Besana, D., Sofia, V., Tabiadon, G., Tortorella, G., Vigliano, P., Vignoli, A., Beccaria, F., Annesi, G., Striano, S., Aguglia, U., Guerrini, R., Quattrone, A., Annesi, F, Gambardella, A, Michelucci, R, Bianchi, A, Marini, C, Canevini, Mp, Capovilla, G, Elia, M, Buti, D, Chifari, R, Striano, P, Rocca, Fe, Castellotti, B, Cali, F, Labate, A, Lepiane, E, Besana, D, Sofia, V, Tabiadon, G, Tortorella, G, Vigliano, P, Vignoli, A, Beccaria, F, Annesi, G, Striano, Salvatore, Aguglia, U, Guerrini, R, Quattrone, A., F., Annesi, A., Gambardella, R., Michelucci, A., Bianchi, C., Marini, M. P., Canevini, G., Capovilla, M., Elia, D., Buti, R., Chifari, P., Striano, F. E., Rocca, B., Castellotti, F., Cali, A., Labate, E., Lepiane, D., Besana, V., Sofia, G., Tabiadon, G., Tortorella, P., Vigliano, A., Vignoli, F., Beccaria, G., Annesi, U., Aguglia, R., Guerrini, and A., Quattrone

Subjects
Adult, Male, Adult, Calcium-Binding Protein, European Continental Ancestry Group, DNA Mutational Analysis, Mutation, Missense, Juvenile, White People, genetics, Family, Female, Genetic Heterogeneity, Genetic Testing, Humans, Italy, Adult, Calcium-Binding Proteins, genetics, Chromosome Mapping, DNA Mutational Analysis, European Continental Ancestry Group, epidemiology, Male, Middle Aged, Mutation, Missense, genetics, Mutation, genetics, Myoclonic Epilepsy, epidemiology/ethnology/genetics, Pedigree, Phenotype, Genetic Heterogeneity, Humans, genetics, Family, Genetic Testing, epidemiology/ethnology/genetics, Calcium-Binding Proteins, Myoclonic Epilepsy, Juvenile, Chromosome Mapping, Middle Aged, Pedigree, Phenotype, Myoclonic Epilepsy, Italy, Mutation, epidemiology, Female
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.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.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.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.

Published
2007

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