Article
Andersen-Tawil syndrome: definition of a neurocognitive phenotype.
Neurology - 13 Jun 2006
Yoon G, Quitania L, Kramer J H, Fu Y H, Miller B L, Ptácek L J
Abstract excerpt
BACKGROUND: The Andersen-Tawil syndrome (ATS) is a potassium ion channelopathy caused by mutations in the KCNJ2 gene. It is characterized by periodic paralysis, cardiac arrhythmias, and distinctive features; the effect of KCNJ2 mutations on the CNS has never been studied. OBJECTIVE: To define a potential CNS phenotype in ATS using standardized methods. METHODS: Ten subjects with KCNJ2 mutations and their...
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