Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

Journal article

OBJECTIVE: To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom. METHODS: Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2. Control samples were screened by direct DNA sequencing. The electrophysiologic consequences of several new mutations were studied i...

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Authors: Davies, N; Imbrici, P; Fialho, D; Herd, C; Bilsland, L

• Publication status: Published
• Journal: Neurology
• Volume: 65
• Issue: 7
• Pages: 1083-1089
• Publication date: 2005-10-01
• DOI: 10.1212/01.wnl.0000178888.03767.74
• EISSN: 1526-632X
• ISSN: 0028-3878
• Language: English
• Keywords: Potassium Channels, Inwardly Rectifying; Potassium Channels; Xenopus laevis; Adolescent; Child, Preschool; Humans; Adult; Genetic Predisposition to Disease; Mutation; Male; Kidney Tubules; Animals; Female; Phenotype; Infant; Andersen Syndrome; DNA Mutational Analysis; Child; Genetic Screening; Tooth Abnormalities; Oocytes