|
Hyperkalemic periodic paralysis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c.2111C > T (T704M) substitution of the gene SCN4A.
|
30931713 |
2019 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].
|
29419865 |
2018 |
|
Hyperkalemic periodic paralysis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients.
|
30172468 |
2018 |
|
Hyperkalemic periodic paralysis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Twenty-eight different SCN4A missense mutations (including three novel mutations) were identified in paramyotonia congenita/sodium channel myotonia, hypokalemic periodic paralysis and hyperkalemic periodic paralysis.
|
29606556 |
2018 |
|
Hyperkalemic periodic paralysis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our case demonstrates the efficacy of hydrochlorothiazide in the prophylactic treatment of normoKPP caused by the SCN4A mutation of p.Thr704Met, the most frequent mutation of hyperKPP.
|
29907477 |
2018 |
|
Hyperkalemic periodic paralysis
|
1.000 |
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 |
|
Hyperkalemic periodic paralysis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Na<sub>v</sub> 1.4 channels.
|
27714768 |
2017 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
|
27415035 |
2017 |
|
Hyperkalemic periodic paralysis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A SCN4A mutation causing paramyotonia congenita.
|
29111379 |
2017 |
|
Hyperkalemic periodic paralysis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
|
26700687 |
2016 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
|
27486940 |
2016 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
|
26944947 |
2016 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
|
26885337 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
|
27199537 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement.
|
26256659 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
|
26252573 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
|
26834636 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
|
25839108 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
|
25724373 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
|
25755818 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
|
27199537 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
|
26080010 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
|
25213595 |
2015 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
|
24682880 |
2014 |
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis.
|
25024265 |
2014 |