rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
20522878
2010
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
11591859
2001
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
10599760
1999
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2 .
16890191
2006
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
BEFREE
The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2 .
16890191
2006
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
10944223
2000
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.
11558801
2001
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
10851391
2000
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
24549961
2014
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
18162704
2007
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
21043388
2010
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
17898326
2008
rs80338785
SCN4A;LOC105371858
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
19118277
2009
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
19118277
2009
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
11591859
2001
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
24549961
2014
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
17898326
2008
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
BEFREE
The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2 .
16890191
2006
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
18162704
2007
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
20522878
2010
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
10851391
2000
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.
11558801
2001
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2 .
16890191
2006
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
10599760
1999
rs80338789
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Hypokalemic Periodic Paralysis, Type 2
0.810
GeneticVariation
UNIPROT
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
10944223
2000