Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum |
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| Authors: | Karl Martin Klein Terence J O'Brien Kavita Praveen Sarah E Heron John C Mulley Simon Foote Samuel F Berkovic Ingrid E Scheffer |
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| Affiliation: | Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia Epilepsy Center Hessen, Department of Neurology, University Hospitals Giessen & Marburg, and Philipps-University Marburg, Marburg, Germany Departments of Medicine and Neurology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, U.S.A. Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia School of Molecular and Biomedical Sciences, and School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia Menzies Research Institute, University of Tasmania, Hobart, Tasmania, Australia Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia Florey Neuroscience Institutes, Heidelberg, Victoria, Australia. |
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| 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. |
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| Keywords: | Chromosome 22q12 FFEVF FPEVF Focal epilepsy Genetic epilepsy |
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