December 1, 1999Neurology

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

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Population

A family with hypokalemic periodic paralysis whose disease is not caused by a mutation in the CACNA1S gene…

Comparison

Single-stranded conformational polymorphism… vs 100 DNA samples from healthy controls.

Design

Other

Authors

DBDennis E. BulmanUniversity of Alberta KSKylie A. ScogganHealth Canada MOM.D. van OeneVictoria Hospital

Discussion

Member takes

Implication

Identifies a novel mutation in the skeletal muscle sodium channel gene (SCN4A) as a cause of hypokalemic periodic paralysis, demonstrating genetic heterogeneity for the disease.

Structured PICO

Population

A family with hypokalemic periodic paralysis (HOKPP) whose disease is not caused by a mutation in the CACNA1S gene, and 100 healthy controls.

Intervention

Single-stranded conformational polymorphism (SSCP) analysis and PCR direct sequencing of the skeletal muscle alpha1-sodium channel gene (SCN4A).

Comparator

100 DNA samples from healthy controls.

Outcome

Identification of a genetic mutation causing HOKPP.surrogate

Identifies a novel mutation in the skeletal muscle sodium channel gene (SCN4A) as a cause of hypokalemic periodic paralysis, demonstrating genetic heterogeneity for the disease.

Cite This Study

Bulman et al. (1999) studied this question.

synapsesocial.com/papers/6a704a5cc2d7c3090826e13c https://doi.org/10.1212/wnl.53.9.1932

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Implication

Identifies a novel mutation in the skeletal muscle sodium channel gene (SCN4A) as a cause of hypokalemic periodic paralysis, demonstrating genetic heterogeneity for the disease.