title: Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2.
abstract: Familial partial epilepsy with variable foci (FPEVF) joins the recently recognized group of inherited partial epilepsies. We describe an Australian family with 10 individuals with partial seizures over four generations. Detailed electroclinical studies were performed on all affected and 17 clinically unaffected family members. The striking finding was that the clinical features of the seizures and interictal electroencephalographic foci differed among family members and included frontal, temporal, occipital, and centroparietal seizures. Mean age of seizure onset was 13 years (range, 0.75-43 years). Two individuals without seizures had epileptiform abnormalities on electroencephalographic studies. Penetrance of seizures was 62%. A genome-wide search failed to demonstrate definitive linkage, but a suggestion of linkage was found on chromosome 2q with a LOD score of 2.74 at recombination fraction of zero with the marker D2S133. FPEVF differs from the other inherited partial epilepsies where partial seizures in different family members are clinically similar. The inherited nature of this new syndrome may be overlooked because of relatively low penetrance and because of the variability in age at onset and electroclinical features between affected family members.
authors.affiliation: Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg (Melbourne), University of Melbourne, Victoria, Australia.
authors.forename: I E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: H A
authors.initials: HA
authors.lastname: Phillips
authors.forename: C E
authors.initials: CE
authors.lastname: O'Brien
authors.forename: M M
authors.initials: MM
authors.lastname: Saling
authors.forename: J A
authors.initials: JA
authors.lastname: Wrennall
authors.forename: R H
authors.initials: RH
authors.lastname: Wallace
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010375:Pedigree; D013577:Syndrome; D014057:Tomography, X-Ray Computed
chemical_list: D005819:Genetic Markers