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
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy / 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 S; Aguglia U; Guerrini R; Quattrone A.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 48 (9):(2007), pp. 1686-1690. [10.1111/j.1528-1167.2007.01173.x]
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Marini C;GUERRINI, RENZO;
2007
Abstract
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
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