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Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
Tomita Ha, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N. Tomita Ha, et al. Among authors: niikawa n. Am J Hum Genet. 1999 Dec;65(6):1688-97. doi: 10.1086/302682. Am J Hum Genet. 1999. PMID: 10577923 Free PMC article.
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura KI, Niikawa N. Kikuchi T, et al. Among authors: niikawa n. J Hum Genet. 2007;52(4):334-341. doi: 10.1007/s10038-007-0116-7. Epub 2007 Feb 14. J Hum Genet. 2007. PMID: 17387577
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Ono S, et al. Among authors: niikawa n. J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. J Hum Genet. 2012. PMID: 22399141
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. Fujimoto M, et al. Among authors: niikawa n. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995
425 results