title: Familial occurrence of early-onset childhood absence epilepsy.
abstract: Early onset of absence seizures (<3 years) is rare and usually associated with a poor cognitive prognosis. Familial cases have not been reported to date. We observed a family in which two out of three sibs showed early-onset absences and mild mental retardation. Linkage to the ECA1 locus, where one clinical subtype of CAE is mapped, was excluded by haplotype analysis. Direct sequencing of the candidate genes CLCN2 ,GABRG2 and CHRNA4 showed no mutations. We suggest the possibility of a specific epileptic syndrome with a putative AR inheritance. Further report of affected patients might allow a better classification.
authors.affiliation: Department of Pediatrics, Child Neurology Unit, Federico II University, Via S Pansini, Naples, Italy. ltitomanlio@libero.it
authors.forename: Luigi
authors.initials: L
authors.lastname: Titomanlio
authors.forename: Alfonso
authors.initials: A
authors.lastname: Romano
authors.forename: Giulia
authors.initials: G
authors.lastname: Bellini
authors.forename: Antonio
authors.initials: A
authors.lastname: Pascotto
authors.forename: Raffaella
authors.initials: R
authors.lastname: Iuliano
authors.forename: Emanuele
authors.initials: E
authors.lastname: Miraglia Del Giudice
authors.forename: Ennio
authors.initials: E
authors.lastname: Del Giudice
mesh_terms: D002648:Child; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8; D004832:Epilepsy, Absence / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male