Hypokalaemic periodic paralysis
Also known as:
SCN4A
Periodic paralysis
CACNA1S
Hypokalaemic periodic paralysis
Periodic paralysis
CACNA1S
Hypokalaemic periodic paralysis
Last modified: 5th February 2023
Theoretical association with:
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs.
Consider MHS if RYR1, CACNA1S, or unknown genotype
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia
Muscle and Nerve 2004
Hypokalemic periodic paralysis associated with malignant hyperthermia
Muscle and Nerve 2002
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
Neurology 1999
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
Brain 2001
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands
Neuromuscular Disorders 2016