Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy

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dc.contributor.authorMcLellan, A.
dc.contributor.authorPhillips, H.
dc.contributor.authorRittey, C.
dc.contributor.authorKirkpatrick, M.
dc.contributor.authorMulley, J.
dc.contributor.authorGoudie, D.
dc.contributor.authorStephenson, J.
dc.contributor.authorTolmie, J.
dc.contributor.authorScheffer, I.
dc.contributor.authorBerkovic, S.
dc.contributor.authorZuberi, S.
dc.date.issued2003
dc.descriptionCopyright © 2003 International League Against Epilepsy
dc.description.abstract<h4>Purpose</h4>Mutations in genes coding for the alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor receptor (CHRN) are known to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Here we examined the phenotypes in two families, from the same ethnic and geographic backgrounds, with ADNFLE as a result of mutations in these two different subunits of CHRN.<h4>Methods</h4>All affected family members underwent a detailed clinical evaluation and review of available EEG, neuroimaging, and videotapes of seizures. The molecular study of family D is reported here; family S has a previously reported mutation in the beta 2 subunit of CHRN.<h4>Results</h4>A total of 16 individuals with ADNFLE were identified in the two families. In both families, seizure semiology, age at seizure onset, and the natural history of the seizure disorder was similar. Intrafamilial variation in terms of severity of epilepsy syndrome was present in both families. A significant number of individuals from each family had a history of psychological problems. The molecular study of family D revealed a Ser248Phe mutation in the alpha 4 subunit of CHRN.<h4>Conclusions</h4>The epilepsy phenotype is not distinguishable in the two families who have ADNFLE as a result of mutations in genes coding for different CHRN subunits. This is likely to be due to the similar functional consequences of each mutation on the CHRN receptor.
dc.description.statementofresponsibilityAilsa McLellan, Hilary A. Phillips, Christopher Rittey, Martin Kirkpatrick, John C. Mulley, David Goudie, John B. P. Stephenson, John Tolmie, Ingrid E. Scheffer, Samuel F. Berkovic, and Sameer M. Zuberi
dc.identifier.citationEpilepsia, 2003; 44(4):613-617
dc.identifier.doi10.1046/j.1528-1157.2003.20102.x
dc.identifier.issn0013-9580
dc.identifier.issn1528-1167
dc.identifier.urihttp://hdl.handle.net/2440/2978
dc.language.isoen
dc.provenancePublished Online: 10 Apr 2003
dc.publisherBlackwell Publishing Inc
dc.source.urihttps://doi.org/10.1046/j.1528-1157.2003.20102.x
dc.subjectHumans
dc.subjectEpilepsy, Frontal Lobe
dc.subjectChromosome Aberrations
dc.subjectGenetic Predisposition to Disease
dc.subjectReceptors, Nicotinic
dc.subjectGenetic Markers
dc.subjectPedigree
dc.subjectDNA Mutational Analysis
dc.subjectMental Disorders
dc.subjectComorbidity
dc.subjectGene Frequency
dc.subjectHaplotypes
dc.subjectGenes, Dominant
dc.subjectPhenotype
dc.subjectAlleles
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectMiddle Aged
dc.subjectScotland
dc.subjectFemale
dc.subjectMale
dc.titlePhenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
dc.typeJournal article
pubs.publication-statusPublished

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