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September 1, 1996Human Molecular GeneticsOpen Access

KVLQT1 mutations in three families with familial or sporadic long QT syndrome

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Population

Two large and nine small families with familial or sporadic long QT syndrome (LQTS)

Design

Case_series

Authors

MRMark W. RussellPediatric Cardiology

Discussion

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Implication

Broadens KVLQT1 variant spectrum in LQTS families; leaves open functional effects and clinical utility.

Structured PICO

P
Population
Two large and nine small families with familial or sporadic long QT syndrome (LQTS)
I
Intervention
Single strand conformational polymorphism (SSCP) analysis to screen for KVLQT1 potassium channel gene mutations
O
Outcome
Identification of mutations in the KVLQT1 potassium channel gene

Identifies novel missense mutations in the KVLQT1 gene in families with long QT syndrome, confirming its role in the disorder and suggesting a dominant negative effect on potassium currents.

Cite This Study

Mark W. Russell (1996) studied this question.

synapsesocial.com/papers/6a844a47cdf3a848bdbd8a5fhttps://doi.org/10.1093/hmg/5.9.1319
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Long QT Syndrome Patients With Mutations of the SCN5A and HERG Genes Have Differential Responses to Na + Channel Blockade and to Increases in Heart Rate1995 · 819 citations
  2. 2Frontometaphyseal dysplasia: Neonatal radiographic diagnosis1995 · 191 citations
  3. 3Analysis of Human Genetic Linkage.1992 · 1,694 citations