Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.

Kyndt, F; Probst, V; Potet, F; Demolombe, S; Chevallier, J C; Baro, I; Moisan, J P; Boisseau, P; Schott, J J; Escande, D; Le Marec, H

Kyndt, F; Probst, V; Potet, F; Demolombe, S; Chevallier, J C; Baro, I; Moisan, J P; Boisseau, P; Schott, J J; Escande, D; Le Marec, H.

Affiliation

Kyndt F; Laboratoire de Physiopathologie et de Pharmacologie Cellulaires et Moléculaires, INSERM U533, Paris, France.

Circulation ; 104(25): 3081-6, 2001 Dec 18.

Article in En | MEDLINE | ID: mdl-11748104

Subject(s)

Heart Conduction System/pathology; Sodium Channels/genetics; Animals; COS Cells; DNA/chemistry; DNA/genetics; DNA Mutational Analysis; Electrocardiography; Family Health; Female; France; Green Fluorescent Proteins; Heart Block/genetics; Heart Block/physiopathology; Heart Conduction System/metabolism; Heart Conduction System/physiopathology; Humans; Luminescent Proteins/genetics; Luminescent Proteins/metabolism; Male; Membrane Potentials/physiology; Microscopy, Confocal; Microscopy, Fluorescence; Mutation; Mutation, Missense; NAV1.5 Voltage-Gated Sodium Channel; Pedigree; Recombinant Fusion Proteins/genetics; Recombinant Fusion Proteins/metabolism; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Sodium Channels / Heart Conduction System Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Circulation Year: 2001 Type: Article Affiliation country: France

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