Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy

Brain Research Bulletin
Romina CombiLuigi Ferini-Strambi

Abstract

Mutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for alpha4 and beta2 subunit, respectively. However, mutations in these genes account for only a minority (less than 10%) of cases. For a third ADNFLE locus (ENFL2) on chromosome 15q24 the gene was not identified. The involvement of the three loci in the pathogenesis of ADNFLE was investigated in 12 unrelated Italian families, selected on the basis of anamnestic and video-polysomnographic data. Compliant family members were typed for polymorphic markers spanning the analyzed chromosome regions. Linkage analyses excluded association of all chromosome regions with ADNFLE in 72% of cases. In two, four and one families it was impossible to ascertain or exclude association with ENFL1, ENFL2, or ENFL3, respectively, however, no mutations have been detected in the nicotinic receptor genes located in these regions. These data strongly suggest that ENFL1, ENFL2 and ENFL3 are minor loci for the disease and point to the existence of at least a fourth locus for ADNFLE.

References

Feb 7, 1998·Science·C BiervertO K Steinlein
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Jun 4, 1999·Brain : a Journal of Neurology·F ProviniP Montagna
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Jun 26, 2003·Epilepsia·Tobias LenigerOrtrud K Steinlein

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Citations

Nov 2, 2012·The Neurologist·Luigi Ferini-StrambiRomina Combi
Oct 14, 2005·Annals of Neurology·Romina CombiMaria L Tenchini
Sep 27, 2005·Brain Research Bulletin·Romina CombiMaria Luisa Tenchini
Apr 22, 2005·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Petra M C CallenbachOebele F Brouwer
Apr 22, 2005·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·G di CorciaF Chiarelli
Apr 23, 2011·Seizure : the Journal of the British Epilepsy Association·Yuko TomonohShinichi Hirose
Mar 15, 2011·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·Martina Vendrame, Sanjeev V Kothare

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