Key result
KCNJ2 mutations in Andersen syndrome caused loss of Kir2.1 channel function, presenting clinically with LQT (71%), periodic paralysis (64%), and ventricular arrhythmias (64%).
Authors
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May guide genetic evaluation in LQT with paralysis; leaves open targeted Kir2.1 therapies.
Observational
Tristani‐Firouzi et al. (2002) conducted an observational in Andersen syndrome (LQT7). KCNJ2 mutations was evaluated on Clinical manifestations (periodic paralysis, dysmorphic features, LQT, ventricular arrhythmias). KCNJ2 mutations in Andersen syndrome caused loss of Kir2.1 channel function, presenting clinically with LQT (71%), periodic paralysis (64%), and ventricular arrhythmias (64%).
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