A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.

Hattori, Tetsuhisa; Makiyama, Takeru; Akao, Masaharu; Ehara, Eiji; Ohno, Seiko; Iguchi, Moritake; Nishio, Yukiko; Sasaki, Kenichi; Itoh, Hideki; Yokode, Masayuki; Kita, Toru; Horie, Minoru; Kimura, Takeshi

Hattori, Tetsuhisa; Makiyama, Takeru; Akao, Masaharu; Ehara, Eiji; Ohno, Seiko; Iguchi, Moritake; Nishio, Yukiko; Sasaki, Kenichi; Itoh, Hideki; Yokode, Masayuki; Kita, Toru; Horie, Minoru; Kimura, Takeshi.

Affiliation

Hattori T; Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.

Cardiovasc Res ; 93(4): 666-73, 2012 Mar 15.

Article in En | MEDLINE | ID: mdl-22155372

Subject(s)

Lown-Ganong-Levine Syndrome/genetics; Lown-Ganong-Levine Syndrome/physiopathology; Mutation/genetics; Potassium Channels, Inwardly Rectifying/genetics; Potassium Channels, Inwardly Rectifying/physiology; Action Potentials/physiology; Animals; Cells, Cultured; Child; Electrocardiography; Female; Genetic Predisposition to Disease/genetics; HEK293 Cells; Heterozygote; Homozygote; Humans; Models, Animal; Myocytes, Cardiac/cytology; Myocytes, Cardiac/physiology; Patch-Clamp Techniques; Pedigree; Rats; Rats, Wistar; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lown-Ganong-Levine Syndrome / Potassium Channels, Inwardly Rectifying / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Child / Female / Humans Language: En Journal: Cardiovasc Res Year: 2012 Document type: Article Affiliation country: Japan

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