Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.

ABSTRACT:

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 variations (c.-3G>A, L15S, R81C, E273X, T309I, I340T, N365S, G394R, R401W) and a questionable heterozygous causative R399X stop variant. Studies on 40 relatives of these 10 patients showed that none of the variants were de novo in the patients and that R399X occurred in 3 non-affected relatives. Most affected amino acids lacked conservation and several clinicall

SUBMITTER: Kuhn M 

PROVIDER: S-EPMC4717442 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature