Andersen’s syndrome

Andersen s syndrome is a rare disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. 

Abnormal potassium channels in Andersen s syndrome cause more than periodic paralysis 721... 

Plaster, N. M., Tawil,R., Tristani-Firouzi, M. etal. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen s syndrome. Cell 105 511-519,2001. 

Ptacek We have looked hard. After reading your paper on the P subunit, I became interested because the P subunit is a great candidate for Andersen s syndrome the same P subunit is used by cardiac and skeletal Na channels. So we looked hard in the P subunit and couldn t find any mutations. I was sure that this was going to be the Andersen s gene, but it appears that it isn t. The only P subunit mutation that I am aware of is the epilepsy mutation identified by John Mulley s group. 

Keywords Andersen s syndrome Electrophysiology Inward rectifier Ion channel Long QT Polyamine Potassium channel Short QT Spermine... 

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