|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2).
|
30931713 |
2019 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2.
|
28012096 |
2017 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
|
26700687 |
2016 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
|
24549961 |
2014 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
|
21043388 |
2010 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
|
20522878 |
2010 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
|
19118277 |
2009 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
|
17898326 |
2008 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
|
19015483 |
2008 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
|
18162704 |
2007 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
We identified a novel hypoPP2 mutation that neutralizes an arginine residue in DIII-S4 (R1132Q), and studied its functional consequences in HEK cells transfected with the human SCN4A cDNA.
|
16890191 |
2006 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel hypoPP2 mutation that neutralizes an arginine residue in DIII-S4 (R1132Q), and studied its functional consequences in HEK cells transfected with the human SCN4A cDNA.
|
16890191 |
2006 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.
|
11558801 |
2001 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
|
11591859 |
2001 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
|
10851391 |
2000 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
|
10944223 |
2000 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
|
10599760 |
1999 |
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Hypokalemic Periodic Paralysis, Type 2
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|