Journal article

Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24

HA Phillips, IE Scheffer, KM Crossland, KP Bhatia, DR Fish, CD Marsden, SJL Howell, JBP Stephenson, J Tolmie, G Plazzi, O Eeg-Olofsson, R Singh, I Lopes-Cendes, E Andermann, F Andermann, SF Berkovic, JC Mulley

AMERICAN JOURNAL OF HUMAN GENETICS | UNIV CHICAGO PRESS | Published : 1998

Abstract

Autosomal dominant nocturnal frontal-lobe epilepsy (ADNFLE) is a recently identified partial epilepsy in which two different mutations have been described in the alpha4 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 gene..

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