Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11

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Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11 Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1 Hiro-aki Tomita, Shinichiro Nagamitsu, Keiko Wakui, Yoshimitsu Fukushima, Koki Yamada, Miyuki Sadamatsu, Akira Masui, Tohru Konishi, Toyojiro Matsuishi, Masao Aihara, Katsunori Shimizu, Kiyoshi Hashimoto, Mari Mineta, Michihito Matsushima, Takahiro Tsujita, Masaaki Saito, Hajime Tanaka, Shoji Tsuji, Toshihisa Takagi, Yusuke Nakamura, Shinichiro Nanko, Nobumasa Kato, Yoshibumi Nakane, Norio Niikawa The American Journal of Human Genetics Volume 65, Issue 6, Pages 1688-1697 (December 1999) DOI: 10.1086/302682 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of eight families with PKC. The blackened squares and circles and the letters “IC” denote individuals affected with PKC and those with infantile convulsion, respectively. The numbers in boxes and the numbers in parentheses represent putative disease haplotypes and haplotypes estimated (deduced from data in sibs and/or children), respectively, in family members. Heavy short lines indicate definite recombination sites, and heavy brackets indicate recombination sites that could have occurred on either side of the corresponding marker(s). The American Journal of Human Genetics 1999 65, 1688-1697DOI: (10.1086/302682) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of eight families with PKC. The blackened squares and circles and the letters “IC” denote individuals affected with PKC and those with infantile convulsion, respectively. The numbers in boxes and the numbers in parentheses represent putative disease haplotypes and haplotypes estimated (deduced from data in sibs and/or children), respectively, in family members. Heavy short lines indicate definite recombination sites, and heavy brackets indicate recombination sites that could have occurred on either side of the corresponding marker(s). The American Journal of Human Genetics 1999 65, 1688-1697DOI: (10.1086/302682) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Multipoint LOD scores with various values of penetrance (p), calculated with use of the VITTESE program (O'Connell and Weeks 1995). Intermarker distances and marker order are according to Dib et al. (1996). PKC denotes family members affected with PKC; PKC and/or IC denotes inclusion of those affected with PKC and/or IC. The American Journal of Human Genetics 1999 65, 1688-1697DOI: (10.1086/302682) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Disease map of paroxysmal dyskinesias on chromosome 16. PKCR is deduced from data from the present study, ICCA is deduced from data from Szepetowski et al. (1997), and RE-PED-WC is deduced from data from Guerrini et al. (1999). The American Journal of Human Genetics 1999 65, 1688-1697DOI: (10.1086/302682) Copyright © 1999 The American Society of Human Genetics Terms and Conditions