Condition: Hyperkalemic periodic paralysis


rs121908556 in LOC105371858;SCN4A gene and Hyperkalemic periodic paralysis PMID 18046642 2008 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 20522878 2010 Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

PMID 22926674 2012 In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.

PMID 19052238 2008 Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.

PMID 10599760 1999 A novel sodium channel mutation in a family with hypokalemic periodic paralysis.

PMID 11102465 2000 The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

PMID 21881211 2011 A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

PMID 18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PMID 25024265 2014 Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis.

PMID 21841462 2012 Genotype and phenotype analysis of patients with sporadic periodic paralysis.

PMID 11912116 2002 Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.

PMID 25213595 2015 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

PMID 26252573 2015 Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.

PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

PMID 20660662 2010 Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations.

PMID 15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

PMID 18824591 2008 Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.

PMID 22253645 2011 Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

PMID 17330043 2007 Gating pore current in an inherited ion channelopathy.

PMID 23019082 2013 Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.

PMID 11558801 2001 Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

PMID 10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PMID 14504341 2003 Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

PMID 2649440 1989 Detection of high-risk groups and individuals for periodontal diseases.

PMID 22926674 2012 Normokalemic periodic paralysis is not a distinct disease.

PMID 20076800 2009 Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.

PMID 8902732 1996 Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

PMID 9508833 1998 Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.

PMID 19015492 2008 Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.

PMID 22106717 2011 A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

PMID 22914841 2012 Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

rs121908544 in SCN4A gene and Hyperkalemic periodic paralysis PMID 8110459 1994 Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

PMID 7809121 1994 Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

PMID 8005599 1994 Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

PMID 1316765 1992 Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

PMID 21490317 2011 Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

PMID 10381583 1999 Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

PMID 16801039 2006 Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.

PMID 20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

PMID 18337730 2008 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

PMID 27415035 2017 Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

PMID 18166706 2008 What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

PMID 7676326 1995 In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4.

PMID 8619545 1996 Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.

PMID 12562902 2003 Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

PMID 23810313 2013 Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

PMID 14518676 2003 Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.

PMID 15790667 2005 A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

PMID 23771340 2013 Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

PMID 21220685 2011 Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.

PMID 8044656 1994 Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

PMID 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

PMID 20445432 2010 A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.

PMID 19770477 2009 A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

PMID 8910215 1996 Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line.

PMID 1310898 1992 Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

PMID 26834636 2015 Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

PMID 11744749 2001 Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

PMID 8242056 1993 A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

PMID 25755818 2015 Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

PMID 9771789 1998 Familial cramp due to potassium-aggravated myotonia.

PMID 20076800 2009 Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.

PMID 1659948 1991 Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

PMID 1659668 1991 A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

PMID 9660885 1998 Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

PMID 8580427 1995 Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

PMID 24939454 2014 Focal and abnormally persistent paralysis associated with congenital paramyotonia.

PMID 27486940 2016 A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.

PMID 29111379 2017 A SCN4A mutation causing paramyotonia congenita.

PMID 21841462 2012 Genotype and phenotype analysis of patients with sporadic periodic paralysis.

PMID 29419865 2018 [Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

PMID 21189962 2010 An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 20522878 2010 Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

PMID 18046642 2008 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

PMID 23516313 2013 Prevalence study of genetically defined skeletal muscle channelopathies in England.

PMID 24549961 2014 NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

PMID 17212350 2007 A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.

PMID 19882638 2010 Homozygosity for dominant mutations increases severity of muscle channelopathies.

PMID 16890191 2006 Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

PMID 17823953 2008 Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.

PMID 7473241 1995 Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.

PMID 26944947 2016 Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

PMID 26080010 2015 Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.

PMID 26885337 2015 Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

PMID 22094069 2012 Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

PMID 7980103 1994 Myotonia fluctuans. A third type of muscle sodium channel disease.

PMID 25088311 2014 Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

PMID 16392038 2005 K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.

PMID 20713951 2010 Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.

PMID 25311598 2014 Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

PMID 8308722 1993 Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

PMID 18337100 2009 Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

PMID 17395131 2007 Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

PMID 10366610 1999 These results, showing that the I1495F and T704M hyperkalaemic periodic paralysis mutations both have profound effects on channel activation and fast-slow inactivation, suggest that the S5 segment maybe in a location where fast and slow inactivation converge.

PMID 19077043 2009 Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.

PMID 15642860 2005 Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

PMID 26256659 2015 We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene.

PMID 22253644 2011 Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the SCN4A gene leading to a Thr704Met mutation in the protein sequence.

PMID 1338909 1992 Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

PMID 9339683 1997 A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.

PMID 11757950 2001 Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation.

PMID 11971097 2002 Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

PMID 21665479 2011 Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.

PMID 24714718 2014 Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content.

PMID 8242056 1993 In addition, the close-by occurring substitution of valine for methionine at position 1592 known to cause hyperkalemic periodic paralysis was deduced for six families with the myotonic, non-dystrophic form of this disease.

PMID 9131651 1997 One such substitution, methionine for valine at position 1592, has been associated with HyperPP with myotonia and cold sensitivity.

PMID 23801527 2013 A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness.

PMID 24943082 2014 [Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].

rs121908552 in SCN4A;LOC105371858 gene and Hyperkalemic periodic paralysis PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

PMID 17334961 2007 Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.

PMID 22653516 2012 Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

PMID 25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

PMID 25724373 2015 Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

PMID 11744749 2001 Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

PMID 19840739 2009 Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).

PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PMID 19065518 2008 [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].

PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

PMID 18046642 2008 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19052238 2008 Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.

PMID 24682880 2014 Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.

PMID 20522878 2010 Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

PMID 22926674 2012 In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 18824591 2008 Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.

PMID 15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

PMID 15557532 2004 SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

PMID 11912116 2002 Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.

PMID 11558801 2001 Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

PMID 18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PMID 26252573 2015 Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.

PMID 15645704 2004 Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A.

PMID 22253645 2011 Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

PMID 23019082 2013 Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.

PMID 11591859 2001 Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

PMID 10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PMID 11971097 2002 Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.