Article
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.
Brain research bulletin - 29 Apr 2009
Combi Romina, Grioni Daniele, Contri Margherita, Redaelli Serena, Redaelli Francesca, Bassi Maria Teresa, Barisani Donatella, Lavitrano Maria Luisa, Tredici Giovanni, Tenchini Maria Luisa, Bertolini Mario, Dalprà Leda
Abstract excerpt
Epilepsies are characterized by genetic heterogeneity and by the possible coexistence of different phenotypes in one family. Moreover, in different epilepsies, mutations in the same gene have been reported. We aimed to collect data in a large Italian cohort of 81 families with children affected by partial or generalized epilepsies and to evaluate the prevalence of several ion channel mutations. In particular, a...
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