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Transcript
From: Molecular Basis of Inherited Epilepsy
Arch Neurol. 2004;61(4):473-478. doi:10.1001/archneur.61.4.473
Figure Legend:
Illustrations of experimental approaches used to identify and characterize epilepsy genes. A, Linkage analysis uses large,
multigenerational kindreds segregating an epilepsy phenotype. The shaded pedigree symbols represent affected individuals. Pairs
of vertical lines beneath each pedigree symbol represent hypothetical alleles or haplotypes (designated by different colors) at a
specific chromosomal region. An asterisk marks the allele or haplotype that segregates with the disease. Circles indicate female
members; squares, male. B, Chromosome 2 ideogram
illustrating
the location
of a single epilepsy-associated gene (SCN1A)
Copyright
© 2004 American
Medical
Date
of download:
6/9/2017
identified
by linkage
analysis. C, Representative DNA
sequence
trace
demonstrating
a heterozygous mutation (C/T) that illustrates
Association. All rights reserved.
an approach to mutation screening. D, Simplified model of the SCN1A voltage-gated sodium channel illustrating the use of a