March 1, 2002Clinical EndocrinologyOpen Access

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Cav1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis

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Population

14 patients with thyrotoxic hypokalaemic periodic paralysis, diagnosed with elevated thyroid hormones…

Comparison

Genetic screening for mutations R528H, R1239H… vs Familial hypokalaemic periodic paralysis family…

Design

Case-control

Authors

MDMagnus R. Dias‐da‐SilvaWilliam C. Tallent Outpatient Clinic JCJanete M. CeruttiUniversidade Federal de São Paulo CTCélia Harumi TenganUniversidade Federal de São Paulo

Discussion

Member takes

Implication

Distinguishes genetic basis of THPP from familial hypokalemic periodic paralysis; 1551/1564 polymorphisms merit validation in larger cohorts.

Structured PICO

Population

14 patients with thyrotoxic hypokalaemic periodic paralysis (THPP) (13 sporadic cases, 1 with family history), diagnosed with elevated thyroid hormones, suppressed TSH, and plasma potassium <3.5 mmol/l.

Intervention

Genetic screening for mutations R528H, R1239H, and R1239G on the S4 voltage-sensing transmembrane segment of the alpha1 subunit of the calcium channel gene (Cav1.1).

Comparator

Familial hypokalaemic periodic paralysis (FHPP) family (positive control) and controls.

Outcome

Presence of mutations R528H, R1239H, and R1239G in the Cav1.1 gene.surrogate

Mutations in the Cav1.1 gene linked to familial hypokalaemic periodic paralysis are not associated with thyrotoxic hypokalaemic periodic paralysis, though specific polymorphisms may be associated.

Cite This Study

Dias‐da‐Silva et al. (2002) studied this question.

synapsesocial.com/papers/6a75b5e787be37a05b161ab4 https://doi.org/10.1046/j.1365-2265.2002.01481.x

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Implication

Distinguishes genetic basis of THPP from familial hypokalemic periodic paralysis; 1551/1564 polymorphisms merit validation in larger cohorts.

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Cav1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Cav1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider