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

Citation

Klein, KM and O'Brien, TJ and Praveen, K and Heron, SE and Mulley, JC and Foote, S and Berkovic, SF and Scheffer, IE, Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum, Epilepsia, 53, (8) pp. e151-e155. ISSN 0013-9580 (2012) [Refereed Article]

Copyright Statement

Copyright 2012 International League Against Epilepsy

DOI: doi:10.1111/j.1528-1167.2012.03585.x

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.

Item Details

Item Type:Refereed Article
Keywords:chromosome 22q12, FFEVF, FPEVF, focal epilepsy, genetic epilepsy
Research Division:Medical and Health Sciences
Research Group:Neurosciences
Research Field:Neurosciences not elsewhere classified
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Nervous System and Disorders
Author:Foote, S (Professor Simon Foote)
ID Code:82059
Year Published:2012
Web of Science® Times Cited:13
Deposited By:Menzies Institute for Medical Research
Deposited On:2013-01-15
Last Modified:2017-11-06
Downloads:0

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