title: Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.
abstract: Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant form of partial epilepsy characterized by the presence of epileptic seizures originating from different cerebral lobes in different members of the same family. Linkage to chromosomes 22q12 and 2q36 has been reported, although only six families have been published. We studied a new FPEVF family including nine affected individuals. The phenotype in this family was similar to that previously described and consisted of nocturnal and daytime seizures with semiology suggesting a frontal lobe origin. A video-EEG (electroencephalography) recording of the proband's seizures is presented and revealed hyperkinetic seizures of frontal lobe origin preceded by left frontal spikes. We excluded linkage to chromosome 2q36 and found a suggestion of linkage to chromosome 22q12 with a lod score of 2.64 (h = 0) for marker D22S689.
authors.affiliation: Epilepsy Unit, Neurology Service, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: José
authors.initials: J
authors.lastname: Morales-Corraliza
authors.forename: Pilar
authors.initials: P
authors.lastname: Gómez-Garre
authors.forename: Raúl
authors.initials: R
authors.lastname: Sanz
authors.forename: Fernando
authors.initials: F
authors.lastname: Díaz-Otero
authors.forename: Eva
authors.initials: E
authors.lastname: Gutiérrez-Delicado
authors.forename: José M
authors.initials: JM
authors.lastname: Serratosa
mesh_terms: D048948:14-3-3 Proteins / Q000235:genetics; D000328:Adult; D002874:Chromosome Mapping / Q000706:statistics & numerical data*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics*; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000235:genetics; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D020190:Myoclonic Epilepsy, Juvenile / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree
chemical_list: D048948:14-3-3 Proteins; C482984:YWHAH protein, human