Journal article

Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum

Karl Martin Klein, Terence J O'Brien, Kavita Praveen, Sarah E Heron, John C Mulley, Simon Foote, Samuel F Berkovic, Ingrid E Scheffer



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 ..

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Awarded by National Health and Medical Research Council of Australia

Awarded by Deutsche Forschungsgemeinschaft

Funding Acknowledgements

We thank the families for participation in our study and Dr. Kathryn Friend for assistance with calculation of LOD scores. The study was supported by the National Health and Medical Research Council of Australia (Program Grant 628952 to SFB, IES, Australia Fellowship 466671 to SFB, Practitioner Fellowship 1006110 to IES and Training Fellowship 1016715 to SEH) and SA Pathology. KMK was supported by a research fellowship from the Deutsche Forschungsgemeinschaft (KL 2254/1-1) and a scholarship from The University of Melbourne.