Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11378
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Type: Journal article
Title: Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
Author: Phillips, H.
Scheffer, I.
Crossland, K.
Bhatia, K.
Fish, D.
Marsden, C.
Howell, S.
Stephenson, J.
Tolmie, J.
Plazzi, G.
Eeg-Olofsson, O.
Singh, R.
Lopes-Cendes, I.
Andermann, E.
Berkovic, S.
Mulley, J.
Citation: American Journal of Human Genetics, 1998; 63(4):1108-1116
Publisher: Elsevier
Issue Date: 1998
ISSN: 0002-9297
1537-6605
Abstract: Autosomal dominant nocturnal frontal-lobe epilepsy (ADNFLE) is a recently identified partial epilepsy in which two different mutations have been described in the 4 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA4). An additional seven families are presented in which ADNFLE is unlinked to the CHRNA4 region on chromosome 20q13.2. Seven additional sporadic cases showed no evidence of defective CHRNA4. One of the families showed evidence of linkage to 15q24, close to the CHRNA3/CHRNA5/CHRNB4 cluster (maximum LOD score of 3.01 with D15S152). Recombination between ADNFLE and CHRNA4, linkage to 15q24 in one family, and exclusion from 15q24 and 20q13.2 in others demonstrate genetic heterogeneity with at least three different genes for ADNFLE. The CHRNA4 gene and the two known CHRNA4 mutations are responsible for only a minority of ADNFLE. Although the ADNFLE phenotype is clinically homogeneous, there appear to be a variety of molecular defects responsible for this disorder, which will provide a challenge to the understanding of the basic mechanism of epileptogenesis.
Keywords: Chromosomes, Human, Pair 15; Humans; Epilepsy, Frontal Lobe; Receptors, Nicotinic; Genetic Markers; Chromosome Mapping; Periodicity; Genes, Dominant; Lod Score; Genetic Heterogeneity; Mutation; Molecular Sequence Data; Female; Male
Rights: Copyright © 1998 The American Society of Human Genetics. All rights reserved.
RMID: 0030004357
DOI: 10.1086/302047
Published version: http://www.cell.com/AJHG/abstract/S0002-9297(07)61803-5
Appears in Collections:Genetics publications

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