Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum
Year: 2012
Type: article
Study design: Observational Study
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.
Source: Epilepsia
Institutions: Philipps University of Marburg, The University of Melbourne, Universitätsklinikum Gießen und Marburg, Austin Health, The Royal Melbourne Hospital, University of North Carolina at Chapel Hill, University of South Australia, Women's and Children's Hospital, The University of Adelaide, University of Tasmania, Royal Children's Hospital, Florey Institute of Neuroscience and Mental Health
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1718812417