Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7738
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Type: Journal article
Title: A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Other Titles: A missense mutation in the neuronal nicotinic acetylcholine receptor alpha4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Author: Steinlein, O.
Mulley, J.
Propping, P.
Wallace, R.
Phillips, H.
Sutherland, G.
Scheffer, I.
Berkovic, S.
Citation: Nature Genetics, 1995; 11(2):201-203
Publisher: Nature Publishing
Issue Date: 1995
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Ortrud K. Steinlein, John C. Mulley, Peter Propping, Robyn H. Wallace, Hilary A. Phillips, Grant R. Sutherland, Ingrid E. Scheffer & Samuel F. Berkovic
Abstract: Epilepsy affects at least 2% of the population at some time in their lives. The epilepsies are a heterogeneous group of disorders, many with an inherited component. Although specific genes have been identified in a few rare diseases causing seizures as part of a more diffuse brain disorder, the molecular pathology of the common idiopathic epilepsies is still unknown. Linkage has been reported for some generalised epilepsy syndromes, but only very recently for familial partial epilepsy syndromes. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a partial epilepsy causing frequent, violent, brief seizures at night, usually beginning in childhood. The gene for ADNFLE maps to chromosome 20q13.2-q13.3 in one large Australian kindred. The neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) maps to the same region of 20q (ref. 12) and the gene is expressed in all layers of the frontal cortex. We screened affected family members for mutations within CHRNA4 and found a missense mutation that replaces serine with phenylalanine at codon 248, a strongly conserved amino acid residue in the second transmembrane domain. The mutation is present in all 21 available affected family members and in four obligate carriers, but not in 333 healthy control subjects.
Keywords: Frontal Lobe; Chromosomes, Human, Pair 20; Animals; Chickens; Humans; Rats; Epilepsy, Frontal Lobe; Receptors, Nicotinic; DNA Primers; Chromosome Mapping; Polymerase Chain Reaction; Pedigree; Amino Acid Sequence; Base Sequence; Sequence Homology, Amino Acid; Genes, Dominant; Point Mutation; Molecular Sequence Data; Female; Male; Genetic Linkage
Description: Copyright © 1995 Nature Publishing Group
RMID: 0030005429
DOI: 10.1038/ng1095-201
Appears in Collections:Paediatrics publications

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