Article
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2016
Kuhn Marius, Jurkat-Rott Karin, Lehmann-Horn Frank
Abstract excerpt
OBJECTIVE: To examine rare KCNJ18 variations recently reported to cause sporadic and thyrotoxic hypokalaemic periodic paralysis (TPP). METHODS: We sequenced KCNJ18 in 474 controls (400 Caucasians, 74 male Asians) and 263 unrelated patients with periodic paralysis (PP), including 30 patients with TPP without mutations in established PP genes. RESULTS: In 10 patients without TPP, we identified 9 heterozygous, novel...
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