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

Abstract:

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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Publication status:
Published

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Authors


Davies, NP More by this author
Imbrici, P More by this author
Bilsland, LG More by this author
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Journal:
Neurology
Volume:
65
Issue:
7
Pages:
1083-1089
Publication date:
2005-10-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:7fd048ff-d808-4aed-8358-291563d63935
Source identifiers:
10679
Local pid:
pubs:10679

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