Disease: Normokalemic Periodic Paralysis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Normokalemic Periodic Paralysis
CUI: C0268445
Disease: Normokalemic Periodic Paralysis
0.040 GeneticVariation BEFREE SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review. 31708864 2019
Normokalemic Periodic Paralysis
CUI: C0268445
Disease: Normokalemic Periodic Paralysis
0.040 GeneticVariation BEFREE We previously reported that R675Q mutation of human skeletal muscle voltage-gated sodium channel α subunit (SCN4A) may be the novel mutation which caused normoPP in Chinese families. 24682880 2014
Normokalemic Periodic Paralysis
CUI: C0268445
Disease: Normokalemic Periodic Paralysis
0.040 GeneticVariation BEFREE In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. 22926674 2012
Normokalemic Periodic Paralysis
CUI: C0268445
Disease: Normokalemic Periodic Paralysis
0.040 GeneticVariation BEFREE In addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP. 18046642 2008