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

Journal of Human Genetics

Volumn 52, Issue 4, 2007, Pages 334-341

  Kikuchi, Taeko ^a,i   Nomura, Masayo ^a,i   Tomita, Hiroaki ^b   Harada, Naoki ^c,i   Kanai, Kazuaki ^d   Konishi, Tohru ^e   Yasuda, Ayako ^f   Matsuura, Masato ^g   Kato, Nobumasa ^h   Yoshiura, Koh Ichiro ^a,i   Niikawa, Norio ^a,i  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Kyushu Medical Science   (Japan)

^d CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e Division of Pediatrics   (Japan)

^f JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^g TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^h UNIVERSITY OF TOKYO   (Japan)

ⁱ JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

ITGAL; Linkage analysis; Mutation analysis; Paroxysmal kinesigenic choreoathetosis (PKC); PKC critical region; SCNN1G

Indexed keywords

ARTICLE; CONTROLLED STUDY; EXON; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MOTOR DYSFUNCTION; PAROXYSMAL ATHETOSIS; POLYMERASE CHAIN REACTION;

ATHETOSIS; CHOREA; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; HAPLOTYPES; HUMANS; JAPAN; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE;

EID: 33947620465     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0116-7     Document Type: Article

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