Skip navigation
Skip navigation

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


File Description SizeFormat Image
01_Klein_Familial_focal_epilepsy_with_2012.pdf251.72 kBAdobe PDF    Request a copy

Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  17 November 2022/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator