|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Subclinical myotonia was identified in four patients with hypokalemic periodic paralysis because of sodium voltage-gated channel alpha subunit 4 mutations.
|
31567646 |
2019 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in all hypoPP patients was performed.
|
25213595 |
2015 |
|
Hypokalemic periodic paralysis
|
0.900 |
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 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralysis (FHPP) pedigrees and in two thyrotoxic hypokalemic periodic paralysis (THPP) pedigrees using polymerase chain reaction, DNA sequencing and sequence alignment with GenBank data.
|
26252573 |
2015 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cases were confirmed genetically (13 with an R528H mutation in CACNA1S, 1 an R669H mutation in SCN4A) or had a convincing clinical diagnosis of HypoPP (13 genetically undetermined) if reported prior to the availability of genetic testing.
|
25088161 |
2014 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Sporadic periodic paralysis (SPP), the second leading cause of hypokalemic periodic paralysis (HPP) in Asia, has a presentation similar to that of familial periodic paralysis (FPP) and is caused by gene mutations in the calcium (Ca(2+)) (CACNA1S) and sodium (Na(+)) (SCN4A) channels of skeletal muscle.
|
21841462 |
2012 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
MGD |
A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.
|
21881211 |
2011 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Work studying molecular mechanisms indicates that 90% of the known mutations causing hypokalaemic periodic paralysis (HypoPP) result in loss of positively charged arginine residues in the S4 segments of either SCN4A or CACNA1S, possibly creating a gating-pore current that may be important in the pathogenesis of HypoPP.
|
20634695 |
2010 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
BEFREE |
We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.
|
19118277 |
2009 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Hypokalaemic periodic paralysis (HypoKPP) is a skeletal muscle channelopathy caused by mutations in calcium (CACNA1S) and sodium (SCN4A) channel subunits.
|
17418573 |
2007 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP.
|
18162704 |
2007 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Because of similarities between familial hypokalemic periodic paralysis (FHypoKPP) and THypoKPP, we sequenced exon 12 of the SCN4A gene, which is known to be mutated in FHypoKPP.
|
15645704 |
2004 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Reported herein are two Korean hypokalemic periodic paralysis families, one carrying a novel SCN4A Arg672Cys mutation with incomplete penetrance in women, and the other carrying a CACNL1A3 Arg528His mutation, with the onset of characteristics of hypoPP developing at an earlier age, as well as a higher penetrance rate in women.
|
15482957 |
2004 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We screened for the mutations (CACN1AS by polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP]; SCN4A by single-strand conformation polymorphism analysis) described in hypoKPP in 20 unrelated patients with documented episodes of TPP (mean age, 40.0 +/- 12.3 years 19 males).
|
15072700 |
2004 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Correlating phenotype and genotype in the periodic paralyses.
|
15534250 |
2004 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Correlating phenotype and genotype in the periodic paralyses.
|
15534250 |
2004 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Both paralysis and myotonia are attributable to the biophysical properties of the SCN4A mutation associated with hypoKPP.
|
14557559 |
2003 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In addition, several mutations (Arg669His, Arg672His, Arg672Gly and Arg672Ser) in the voltage sensor of the skeletal muscle sodium channel alpha-subunit (SCN4A gene) have been found in families with hypoPP (type II).
|
11912116 |
2002 |
|
Hypokalemic periodic paralysis
|
0.900 |
Biomarker
|
disease |
CTD_human |
In addition, several mutations (Arg669His, Arg672His, Arg672Gly and Arg672Ser) in the voltage sensor of the skeletal muscle sodium channel alpha-subunit (SCN4A gene) have been found in families with hypoPP (type II).
|
11912116 |
2002 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The authors conclude that SCN4A mutations are an uncommon cause of hypoPP in this UK population.
|
11591859 |
2001 |
|
Hypokalemic periodic paralysis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Some remarkable clinical features were observed in a large hypoPP family carrying an SCN4A mutation: a complete penetrance in men and women, an early age at onset, postcritic myalgias and an increased number and severity of attacks induced by acetazolamide.
|
11353725 |
2001 |
|
Hypokalemic periodic paralysis
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|