Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference19 articles.
1. Channelopathies;Jen,2001
2. Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel;Lapie;Neuromuscl Disord,1997
3. The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis;Kim;J Korean Med Sci,2007
4. Hypokalemic periodic paralysis type2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A;Sternberg;Brain,2001
5. Mapping of hypokalemic periodic paralysis to chromosome 1q31-q32 in three European families;Fontaine;Nat Genet,1994
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1. Periodic paralysis;Handbook of Clinical Neurology;2024
2. 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
3. A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review;BMC Pediatrics;2023-10-02
4. A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature;Italian Journal of Pediatrics;2022-07-15
5. Familial Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel;Erciyes Medical Journal;2022
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