Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11532
Title: Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.
Authors: Klein, Karl Martin;O'Brien, Terence J;Praveen, Kavita;Heron, Sarah E;Mulley, John C;Foote, Simon;Berkovic, Samuel F;Scheffer, Ingrid E
Affiliation: Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Issue Date: 10-Jul-2012
Citation: Epilepsia 2012; 53(8): e151-5
Abstract: We aimed to refine the phenotypic spectrum and map the causative gene in two families with familial focal epilepsy with variable foci (FFEVF). A new five-generation Australian FFEVF family (A) underwent electroclinical phenotyping, and the original four-generation Australian FFEVF family (B) (Ann Neurol, 44, 1998, 890) was re-analyzed, including new affected individuals. Mapping studies examined segregation at the chromosome 22q12 FFEVF region. In family B, the original whole genome microsatellite data was reviewed. Five subjects in family A and 10 in family B had FFEVF with predominantly awake attacks and active EEG studies with a different phenotypic picture from other families. In family B, reanalysis excluded the tentative 2q locus reported. Both families mapped to chromosome 22q12. Our results confirm chromosome 22q12 as the solitary locus for FFEVF. Both families show a subtly different phenotype to other published families extending the clinical spectrum of FFEVF.
Internal ID Number: 22780917
URI: http://ahro.austin.org.au/austinjspui/handle/1/11532
DOI: 10.1111/j.1528-1167.2012.03585.x
URL: http://www.ncbi.nlm.nih.gov/pubmed/22780917
Type: Journal Article
Subjects: Adolescent
Adult
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, 21-22 and Y.genetics
Electroencephalography
Epilepsies, Partial.genetics.physiopathology
Female
Genetic Linkage.genetics
Genotype
Humans
Infant
Lod Score
Male
Microsatellite Repeats.genetics
Pedigree
Phenotype
Young Adult
Appears in Collections:Journal articles

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