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

doi:10.1046/j.1528-1157.2003.20102.x

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Article

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

Epilepsia - 1 Apr 2003

McLellan Ailsa, Phillips Hilary A, Rittey Christopher, Kirkpatrick Martin, Mulley John C, Goudie David, Stephenson John B P, Tolmie John, Scheffer Ingrid E, Berkovic Samuel F, Zuberi Sameer M

Abstract excerpt

PURPOSE: 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. METHODS: All affected...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Alleles
Chromosome Aberrations
Comorbidity
DNA Mutational Analysis
Epilepsy, Frontal Lobe
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Frequency

Genes, Dominant

Genetic Markers

Genetic Predisposition to Disease

Haplotypes

Humans

Male

Mental Disorders

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Open in PubMed

Identifiers

PMID: 12681012
DOI: 10.1046/j.1528-1157.2003.20102.x

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