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Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures
  1. L Claes1,
  2. D Audenaert1,
  3. L Deprez1,
  4. W Van Paesschen1,
  5. C Depondt3,
  6. D Goossens1,
  7. J Del-Favero1,
  8. C Van Broeckhoven3,
  9. P De Jonghe1,2
  1. 1Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
  2. 2Department of Neurology, University Hospital Antwerp
  3. 3Department of Neurology, University Hospital of Leuven, Belgium
  1. Correspondence to:
 P De Jonghe
 Department of Molecular Genetics, Epilepsy Research Group, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; peter.dejongheua.ac.be

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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 defined by familial occurrence of simple partial seizures, complex partial seizures, and secondarily generalised seizures of temporal lobe origin.6 Two genetically distinct autosomal dominant familial temporal lobe epilepsy syndromes have been reported. Autosomal dominant lateral temporal lobe epilepsy (MIM 600512), or autosomal dominant partial epilepsy with auditory features, was described first by Ottman et al.,7 and recently, mutations in the leucine rich glioma inactivated 1 (LGI1) gene on chromosome 10q24 were identified.8,9 Auras that present as auditory and visual hallucinations are a clinical hallmark of this syndrome. The other variant of familial temporal lobe epilepsy is characterised clinically by onset in teenage years or early adulthood, absence of antecedent factors, low frequency of deja vu, and a usually good prognosis. This variant, which still can be heterogeneous genetically, is not mapped yet. In a large family with febrile seizures …

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Footnotes

  • Funding: This research was funded by the Fund for Scientific Research-Flanders (FWO), University of Antwerp, the Medical Foundation Queen Elisabeth and the Interuniversity Attraction Poles (IUAP) programme P5/19 of the Federal Science Policy Office, Belgium.

  • Conflicts of interest: none declared.