A BFIS‐like syndrome with late onset and febrile seizures: Suggestive linkage to chromosome 16p11.2–16q12.1
- 11 November 2008
- Vol. 49 (11), 1959-1964
- https://doi.org/10.1111/j.1528-1167.2008.01646.x
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.This publication has 15 references indexed in Scilit:
- Ion Channel Defects in Idiopathic EpilepsiesCurrent Pharmaceutical Design, 2005
- A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plusJournal of Medical Genetics, 2005
- Refinement of the chromosome 16 locus for benign familial infantile convulsionsClinical Genetics, 2005
- Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 FamiliesEpilepsia, 2004
- Sodium-channel defects in benign familial neonatal-infantile seizuresThe Lancet, 2002
- Febrile SeizuresJournal of Child Neurology, 2002
- Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis SyndromeAmerican Journal of Human Genetics, 2001
- Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16American Journal of Human Genetics, 1997
- Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19qHuman Molecular Genetics, 1997
- Benign infantile familial convulsionsEuropean Journal of Pediatrics, 1992