LETTER TO JMG

Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

L Claes¹, D Audenaert¹, L Deprez¹, W Van Paesschen¹, C Depondt³, D Goossens¹, J Del-Favero¹, C Van Broeckhoven³, P De Jonghe^1,2

¹ Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
² Department of Neurology, University Hospital Antwerp
³ Department of Neurology, University Hospital of Leuven, Belgium

Correspondence to:
Correspondence to:
P De Jonghe
Department of Molecular Genetics, Epilepsy Research Group, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; peter.dejonghe@ua.ac.be

Received 18 February 2004

Accepted 20 March 2004

Keywords: epilepsy; chromosome 12; novel locus

The first 150 words of the full text of this article appear below.

Idiopathic epilepsies have a genetic basis and are characterised by the absence of an overt underlying neurological abnormality. Most idiopathic epilepsies are complex diseases with considerable clinical and genetic heterogeneity and an unclear inheritance pattern because of genetic and environmental factors. Families in which the disease segregates as an autosomal dominant trait with reduced disease penetrance have been identified occasionally. In some of these families, a single gene defect was identified as the cause of epilepsy. To date, mutations in 13 genes have been identified for distinct epilepsy types. Most genes encode subunits of ion channels.^1,2 In addition, the gene remains to be identified for 21 mapped loci for epilepsy, which highlights the genetic heterogeneity of the idiopathic epilepsy syndromes.^3,4

Familial temporal lobe epilepsy (MIM 608096) was first described by Berkovic et al. and was recognised as a distinct epileptic syndrome by the International League Against Epilepsy.⁵ It is . . . [Full text of this article]

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