title: Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.
abstract: 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 clinical and genetic survey was performed and DNA regions known to be associated with several epilepsies were analysed by sequencing. We observed genetic complexity in all phenotype groups: any epileptic type may be transmitted as either autosomal dominant or recessive. No significant phenotype identity among generations and no differences among genders could be observed. Two missense mutations in SCN1A were identified in two GEFS+ probands confirming the importance of this channel for this epilepsy. Moreover, a previously unreported CLCN2 mutation was detected in a proband showing CAE. In conclusion, even in this highly heterogeneous cohort, the complexity of the epileptic condition was highlighted and mutations in the analysed candidate region of ion channel genes appear to explain only a minority of cases.
authors.affiliation: Department of Biotechnology and Biosciences, University of Milan-Bicocca, p.zza della Scienza 2, 20126 Milano, Italy.
authors.forename: Romina
authors.initials: R
authors.lastname: Combi
authors.forename: Daniele
authors.initials: D
authors.lastname: Grioni
authors.forename: Margherita
authors.initials: M
authors.lastname: Contri
authors.forename: Serena
authors.initials: S
authors.lastname: Redaelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Redaelli
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bassi
authors.forename: Donatella
authors.initials: D
authors.lastname: Barisani
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Lavitrano
authors.forename: Giovanni
authors.initials: G
authors.lastname: Tredici
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Tenchini
authors.forename: Mario
authors.initials: M
authors.lastname: Bertolini
authors.forename: Leda
authors.initials: L
authors.lastname: Dalprà
mesh_terms: D000293:Adolescent; D000090007:CLC-2 Chloride Channels; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics; D015988:Cohort Effect; D015331:Cohort Studies; D004827:Epilepsy / Q000453:epidemiology* / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D020125:Mutation, Missense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012737:Sex Factors; D015222:Sodium Channels / Q000235:genetics
chemical_list: D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels