title: A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.
abstract: Benign familial infantile seizures (BFIS) is a dominant idiopathic epilepsy with partial and secondarily generalized seizures with age of onsetr between 3 and 12 months. Here we describe a four-generation family with some characteristic features of BFIS but with unusual clinical signs, in eight affected members with an unusual clinical phenotype. Onset was consistently between 14 and 20 months of age with clusters of complex-partial or generalized tonic-clonic seizures and a high rate of febrile seizures, which have not been described for BFIS previously. All affected members showed multifocal interictal epileptiform discharges in the EEG. The known loci for benign familial neonatal/infantile seizures (BFNS/BFNIS), generalized epilepsy with febrile seizures plus (GEFS+) and the BFIS locus on chromosome 19q were excluded. Further genetic analysis showed suggestive linkage to the major BFIS locus on chromosome 16 between markers D16S690 and D16S3136. This ;;BFIS-like'' syndrome may enlarge the phenotypic spectrum of diseases linked to the chromosome 16 region.
authors.affiliation: Neurologische Klinik, Universität Ulm, Germany.
authors.forename: Yvonne G
authors.initials: YG
authors.lastname: Weber
authors.forename: Miriam
authors.initials: M
authors.lastname: Jacob
authors.forename: Gabriele
authors.initials: G
authors.lastname: Weber
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
mesh_terms: D000367:Age Factors; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D017029:Epilepsy, Complex Partial / Q000150:complications / Q000175:diagnosis; D004830:Epilepsy, Tonic-Clonic / Q000150:complications / Q000175:diagnosis; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D015994:Incidence; D007223:Infant; D017354:Point Mutation / Q000235:genetics; D015995:Prevalence; D003294:Seizures, Febrile / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D005819:Genetic Markers