An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel geneSCN4A
Author:
Affiliation:
1. Department of Pediatrics, Konyang University College of Medicine, Daejeon, Korea.
Publisher
Korean Pediatric Society
Subject
Pediatrics,Pediatrics, Perinatology, and Child Health
Link
http://kjp.or.kr/upload/pdf/kjped-53-909.pdf
Reference13 articles.
1. Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel
2. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
3. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
4. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy
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1. Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review;Heliyon;2024-04
2. Ramen noodle neuropathy: an atypical case of partial paralysis from malnutrition;The American Journal of Emergency Medicine;2024-01
3. Prevalence and risk factors of low vitamin D levels in children and adolescents with familial hypokalemic periodic paralysis;European Journal of Pediatrics;2023-10-25
4. NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers;Scientific Reports;2018-07-10
5. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita;The Journal of Physiology;2017-10-15
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