Key result
Mutations of the α subunit of the skeletal muscle Na channel cause hyperkalemic periodic paralysis, serving as a model for understanding other neurologic channelopathies.
Highlights the importance of studying specific mutations in the Na channel gene to understand and potentially correct clinical findings in hyperkalemic periodic paralysis.
Molecular defects of neuronal and muscle membrane ion channels are the causes of a large and growing number of neurologic diseases termed channelopathies. The article by Hayward et al. in this issue of Neurology characterizes how a defect in a specific muscle Na channel affects membrane function and may produce muscle paralysis.1 This study is the logical extension of the discovery that hyperkalemic periodic paralysis (HyperPP) is caused by mutations of the α subunit of the skeletal muscle Na channel.2,3 By studying the effects of specific mutations in various regions of the Na channel gene, it should be possible to account for clinical findings and to explore ways of correcting the defect. HyperPP is a rare disease. However, the lessons learned from the study of the genetics of this disease are applicable to the many other ion channel diseases that underlie an array of neurologic diseases. Examples of muscle channelopathies include malignant hyperthermia, myotonia, and the congenital myasthenias. CNS channel …
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Griggs et al. (1999) conducted an editorial in Hyperkalemic periodic paralysis (HyperPP) and channelopathies. Mutations of the α subunit of the skeletal muscle Na channel was evaluated. Mutations of the α subunit of the skeletal muscle Na channel cause hyperkalemic periodic paralysis, serving as a model for understanding other neurologic channelopathies.
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