Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: A novel mutation in the pore selectivity filter residue

Journal of Child Neurology

Volumn 25, Issue 4, 2010, Pages 490-493

  Lim, Byung Chan ^a   Kim, Gi Beom ^a   Bae, Eun Jung ^a   Noh, Chung Il ^a   Hwang, Hee ^a   Kim, Ki Joong ^a   Hwang, Yong Seung ^a   Ko, Tae Sung ^b   Chae, Jong Hee ^a  

^a Seoul National University   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

Author keywords

Andersen syndrome; Cardiac arrhythmia; KCNJ2 gene; Mutation; Periodic paralysis

Indexed keywords

ACETAZOLAMIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; ISOPRENALINE; POTASSIUM;

ADOLESCENT; ANDERSEN SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CLINODACTYLY; CODON; CONTROLLED STUDY; DISEASE PREDISPOSITION; DIZZINESS; ELECTROCARDIOGRAPHY MONITORING; EXERCISE; FACE DYSMORPHIA; FOLLOW UP; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; HEART VENTRICLE BIGEMINY; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERTELORISM; LOW SET EAR; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PERIODIC PARALYSIS; POTASSIUM CHANNELOPATHY; PRIORITY JOURNAL; PROVOCATION TEST; SCHOOL CHILD; SEQUENCE ANALYSIS; SKELETON MALFORMATION; THORAX PAIN;

ADOLESCENT; ANDERSEN SYNDROME; CARBONIC ANHYDRASE INHIBITORS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUSCLE WEAKNESS; MUTATION; PARALYSES, FAMILIAL PERIODIC; PHENOTYPE; POTASSIUM; POTASSIUM CHANNELS, INWARDLY RECTIFYING; POTASSIUM DEFICIENCY; REPUBLIC OF KOREA;

EID: 77950951326     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809357937     Document Type: Article

References (12)

1. Sansone V., Griggs RC, Meola G., et al. Andersens syndrome: a distinct periodic paralysis. Ann Neurol. 1997 ; 42 (3). 305-312. (Pubitemid 27391113)
2. Tawil R., Ptacek LJ, Pavlakis SG, et al. Andersens syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994 ; 35 (3). 326-330. (Pubitemid 24089656)
3. Plaster NM, Tawil R., Tristani-Firouzi M., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersens syndrome. Cell. 2001 ; 105 (4). 511-519. (Pubitemid 32520856)
4. Haruna Y., Kobori A., Makiyama T., et al. Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 ; 28 (2). 208.
5. Davies NP, Imbrici P., Fialho D., et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 ; 65 (7). 1083-1089. (Pubitemid 41429635)
6. Lu CW, Lin JH, Rajawat YS, et al. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. J Med Genet. 2006 ; 43 (8). 653-659. (Pubitemid 44214902)
7. Donaldson MR, Jensen JL, Tristani-Firouzi M., et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 ; 60 (11). 1811-1816. (Pubitemid 36737079)
8. Donaldson MR, Yoon G., Fu YH, Ptacek LJ Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004 ; 36 (suppl 1). 92-97. (Pubitemid 38669930)
9. Ballester LY, Benson DW, Wong B., et al. Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat. 2006 ; 27 (4). 388.
10. Hosaka Y., Hanawa H., Washizuka T., et al. Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersens syndrome. J Mol Cell Cardiol. 2003 ; 35 (4). 409-415. (Pubitemid 36411702)
11. Venance SL, Cannon SC, Fialho D., et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006 ; 129 (pt 1). 8-17. (Pubitemid 43063755)
12. Sansone V., Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics. 2007 ; 4 (2). 233-237. (Pubitemid 46467540)