Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108 2015
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. 24682880 2014
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR Normokalemic periodic paralysis is not a distinct disease. 22926674 2012
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. 19225109 2009
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518 2008
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642 2008
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 19052238 2008
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004