Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia

Circulation

Volumn 105, Issue 22, 2002, Pages 2592-2594

  Ai, Tomohiko ^a   Fujiwara, Yuichiro ^b   Tsuji, Keiko ^a   Otani, Hideo ^a   Nakano, Shozo ^c   Kubo, Yoshihiro ^b   Horie, Minoru ^a,d  

^a KYOTO UNIVERSITY   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c Ishimaru Pediatric Clinic   (Japan)

^d KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Arrhythmia; Genes; Ion channels; Paralysis

Indexed keywords

GENE PRODUCT; PROTEIN KCNJ2; UNCLASSIFIED DRUG;

ADOLESCENT; ANDERSEN SYNDROME; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORRELATION ANALYSIS; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; GENE LOCUS; HEART VENTRICLE ARRHYTHMIA; HETEROZYGOSITY; HUMAN; JAPAN; MALE; MISSENSE MUTATION; MUTAGENESIS; OOCYTE; PATHOGENESIS; PERIODIC PARALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QT INTERVAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; XENOPUS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SUBSTITUTION; ANIMALS; ARRHYTHMIA; BINDING SITES; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; JAPAN; MALE; MUTAGENESIS, SITE-DIRECTED; OOCYTES; PARALYSES, FAMILIAL PERIODIC; PATCH-CLAMP TECHNIQUES; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SYNDROME; TRANSFECTION; VENTRICULAR DYSFUNCTION; XENOPUS;

EID: 0037024233     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.0000019906.35135.A3     Document Type: Article

References (14)

1. Periodic paralysis with cardiac arrhythmia
2. Hyperkalemic periodic paralysis with cardiac arrhythmia
3. Hypokalemic periodic paralysis with arrhythmia
4. Andersen's syndrome: A distinct periodic paralysis
5. Andersen syndrome autosomal dominant in three generations
6. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
7. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies: A new syndrome?
8. Primary structure and functional expression of a mouse inward rectifier potassium channel
9. Molecular cloning and expression of a human heart inward rectifier potassium channel
10. Analysis of human Y-chromosome specific reiterated DNA in chromosome variants
11. Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome
12. + channel
13. 2 binding sites in Kir2.1 inwardly rectifying potassium channels
14. Regions responsible for the assembly of inwardly rectifying potassium channels