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

Klein, Karl; O'Brien, Terence J.; Praveen, Kavita; Heron, Sarah; Mulley, John C.; Foote, Simon; Berkovic, Sam F.; Scheffer, Ingrid


Summary 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...[Show more]

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
Source: Epilepsia
DOI: 10.1111/j.1528-1167.2012.03585.x


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