Disease: Paramyotonia Congenita (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2). 30931713 2019
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Our patient developed intermittent episodes of stridor quickly progressing to apnea shortly after birth that were marked by PVFM on laryngoscopy, ultimately leading to the diagnosis of a previously unrecognized mutation in SCN4A, the gene responsible for PC. 31382107 2019
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Twenty-eight different SCN4A missense mutations (including three novel mutations) were identified in paramyotonia congenita/sodium channel myotonia, hypokalemic periodic paralysis and hyperkalemic periodic paralysis. 29606556 2018
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE In this study we present a case of paramyotonia congenita in a family with several affected members and in which a mutation in the SCN4A gene was identified. 29111379 2017
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE These diseases can not be simply distinguished only based on symptoms and signs but also on genetics: more than 100 mutations in the CLCN1 gene have been associated with MC, while at least 20 mutations in the SCN4A gene have been associated with PC and SCM. 27415035 2017
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. 26700687 2016
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. 25839108 2015
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Mutations in SCN4A encoding the voltage-gated sodium channel NaV1.4 have been implicated in a wide spectrum of neuromuscular disorders with variable onset, ranging from a rare form of congenital myasthenic syndrome to both hypokalemic and hyperkalemic forms of periodic paralysis and paramyotonia congenita. 25311598 2014
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE They are caused by mutations in either the CLCN1 gene in myotonia congenita or in the SCN4A gene in paramyotonia congenita and sodium channel myotonias. 25088311 2014
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE In the whole sample (665 patients), 15 out of 104 different CLCN1 mutations accounted for 60% of all patients with myotonia congenita, 11 out of 22 SCN4A mutations for 86% of paramyotonia congenita/sodium channel myotonia pedigrees, and 3 out of 17 KCNJ2 mutations for 42% of ATS pedigrees. 23516313 2013
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family. 21665479 2011
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE A child carrying the Thr1313Met SCN4A mutation associated with paramyotonia congenita. 21220685 2011
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs. 19077043 2009
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs. 19077043 2009
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800 2009
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity. 18166706 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Mutations within the voltage-gated sodium channel alpha-subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium-aggravated myotonias. 18203179 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity. 18166706 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. 18690054 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. 19015483 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE We report a phenotype associated with the Val1589Met substitution in SCN4A gene in a French family which would be better classified as paramyotonia congenita. 16624558 2006
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica. 16801039 2006
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT Cold extends electromyography distinction between ion channel mutations causing myotonia. 16786525 2006
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. 15790667 2005
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. 15318338 2004