Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J

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Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12 Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J. Hudson, Richard Desbiens, Georges Patry, Simon Verret, Pierre Langevin, Suha Mercho, Marie-Hélène Seni, Ingrid Scheffer, François Dubeau, Samuel F. Berkovic, Frederick Andermann, Eva Andermann, Massimo Pandolfo The American Journal of Human Genetics Volume 65, Issue 6, Pages 1698-1710 (December 1999) DOI: 10.1086/302649 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of two French-Canadian families segregating FPEVF. Only individuals indicated with blackened symbols were considered as affected in the analysis to establish linkage and then were used to identify the critical interval. Chromosome 22q11-q12 marker data are indicated below each typed individual. The disease-associated haplotype is boxed. In 22 individuals (panel A), two deduced paternal recombinations that define the centromeric boundary of the candidate region can be detected: one recombination occurred between D22S1144 and D22S1163 in II:1, the other between D22S1154 and D22S1144 in II:15. A paternal recombination between D22S685 and D22S280 occurred in III:16 and defines the telomeric boundary of the candidate interval. Note the homozygosity of the proband of family 22 (IV:30) for all but two distal markers. For distances between the markers, refer to figure 2. Inferred haplotypes are in parentheses. The American Journal of Human Genetics 1999 65, 1698-1710DOI: (10.1086/302649) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of two French-Canadian families segregating FPEVF. Only individuals indicated with blackened symbols were considered as affected in the analysis to establish linkage and then were used to identify the critical interval. Chromosome 22q11-q12 marker data are indicated below each typed individual. The disease-associated haplotype is boxed. In 22 individuals (panel A), two deduced paternal recombinations that define the centromeric boundary of the candidate region can be detected: one recombination occurred between D22S1144 and D22S1163 in II:1, the other between D22S1154 and D22S1144 in II:15. A paternal recombination between D22S685 and D22S280 occurred in III:16 and defines the telomeric boundary of the candidate interval. Note the homozygosity of the proband of family 22 (IV:30) for all but two distal markers. For distances between the markers, refer to figure 2. Inferred haplotypes are in parentheses. The American Journal of Human Genetics 1999 65, 1698-1710DOI: (10.1086/302649) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Disease haplotypes in families 22 and 14. The order of markers is based on the physical map of contig 22 in the Sanger Centre map, genetic distances (sex-averaged) are according to the Généthon map (Dib et al. 1996). F22 designates the disease haplotype in family 22, F22* the maternal haplotype of the proband of family 22. F14 designates the disease haplotype in family 14. Shared haplotype portions are gray. Markers within the candidate interval defined by recombination analysis are in bold. The 3.8-cM candidate region is marked by an arrow. The American Journal of Human Genetics 1999 65, 1698-1710DOI: (10.1086/302649) Copyright © 1999 The American Society of Human Genetics Terms and Conditions