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.
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy / Romina Combi, Leda Dalprà, Massimo Malcovati, Alessandro Oldani, Maria Luisa Tenchini, Luigi Ferini-Strambi. - In: BRAIN RESEARCH BULLETIN. - ISSN 0361-9230. - 63:5(2004 Jun 30), pp. 353-359.
|Titolo:||Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy|
|Parole Chiave:||partial epilepsy ; ADNFLE ; linkage analysis ; mutation ; sleep|
|Settore Scientifico Disciplinare:||Settore BIO/13 - Biologia Applicata|
Settore BIO/11 - Biologia Molecolare
|Data di pubblicazione:||30-giu-2004|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.brainresbull.2003.12.007|
|Appare nelle tipologie:||01 - Articolo su periodico|