Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation?

Baquero, J. L.; Ayala, R.; Wang, Jianzhou; Curless, Richard G.; Feero, W. Gregory; Hoffman, Eric P.; Ebeid, Makram R.

doi:10.1002/ana.410370320

Cited by 15 publications

(7 citation statements)

References 13 publications

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“…À Met1592Val occurred in all the patients in family 1, did not occurred in their relatives with no symptom. Chinnery et al reported a normoKPP case occurred the same mutation, which means Met1592Val does exist in different races and leads to normoKPP or hyperKPP (Chinnery et al 2002).`Val 781 Ile occurred in the patient and her father (with no symptom) in family 4, which had been reported to occur in a scattered hyperKPP case, and later functional expression study by Green et al showed probably a benign polymorphism (Baquero et al 1995;Green et al 1997).…”

Section: Discussionmentioning

confidence: 93%

Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

Guo

Zhu

et al. 2007

Cell Mol Neurobiol

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Section: Discussionmentioning

confidence: 93%

Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

Guo

Zhu

et al. 2007

Cell Mol Neurobiol

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“…Genetic heterogeneity in periodic paralysis with cardiac arrhythmia is likely. Before our 1994 report, other patients with periodic paralysis and cardiac arrhythmias had been described (see Table I) [I, [4][5][6][7][8][9][10][11][12]. Only 2…”

Section: Discussionmentioning

confidence: 99%

“…However, with the recent description of a case of periodic paralysis with cardiac arrhythmias associated with a sodium channel mutation [12], it appears possible that there exist syndromes of periodic paralysis with cardiac involvement distinct from AS, although the gene defect has still to be identified. …”

Section: Discussionmentioning

confidence: 99%

Andersen's syndrome: A distinct periodic paralysis

Sansone

Griggs

Meola

et al. 1997

Annals of Neurology

198

103

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A previous study of 4 patients defined Andersen's syndrome (AS) as a triad of potassium-sensitive periodic paralysis, ventricular dysrhythmias, and dysmorphic features. AS appears to be distinct in terms of its genetic defect from the a-subunit of skeletal muscle sodium channel and the cardiac potassium channel responsible for most long QT syndromes (LQT1). We studied 11 additional patients with AS from 5 kindreds. Spontaneous attacks of paralysis were associated with hypokalemia, normokalemia, or hyperkalemia. All 11 patients had similar dysmorphic features. The QT interval was prolonged in all patients although only 4 were symptomatic. Genetic linkage studies excluded linkage to the a-subunit of the skeletal muscle sodium channel and to four distinct LQT loci. In addition, none of the common dihydropyridine receptor mutations responsible for hypokalemic periodic paralysis were present. We conclude that (1) AS is a genetically unique channelopathy affecting both cardiac and skeletal membrane excitability, (2) attacks of paralysis may be either hypokalemic or hyperkalemic, (3) a prolonged QT interval is an integral feature of this syndrome, and (4) a prolonged QT interval may be the only sign in an individual from an otherwise typical AS kindred. This may be confused with more common, potentially lethal LQT syndromes.

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“…This variant, currently classified as having no functional effect (Hofman classification; Table 2), was previously reported in association with hyperkalemic and normokalemic periodic paralysis. 33,34 However, a functional expression study supported the hypothesis that this variant should be classified as a rare benign polymorphism rather than a causative mutation. 35 No other family members were included in that study to evaluate segregation.…”

Section: Screening For Bs In Patients With Muscular Sodium Channelopamentioning

confidence: 93%

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

et al. 2015

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SCN5A mutations involving the α-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome. On the other hand, mutations in SCN4A encoding the α-subunit of the skeletal voltage-gated sodium channel (NaV1.4) cause non-dystrophic myotonia and/or periodic paralysis. In this study, we investigated whether cardiac arrhythmias or channelopathies such as Brugada syndrome can be part of the clinical phenotype associated with SCN4A variants and whether patients with Brugada syndrome present with nondystrophic myotonia or periodic paralysis and related gene mutations. We therefore screened seven families with different SCN4A variants and non-dystrophic myotonia phenotypes for Brugada syndrome and performed a neurological, neurophysiological and genetic work-up in 107 Brugada families. In the families with an SCN4A-associated non-dystrophic myotonia, three patients had a clinical diagnosis of Brugada syndrome, whereas we found a remarkably high prevalence of myotonic features involving different genes in the families with Brugada syndrome. One Brugada family carried an SCN4A variant that is predicted to probably affect function, one family suffered from a not genetically confirmed non-dystrophic myotonia, one family was diagnosed with myotonic dystrophy (DMPK gene) and one family had a Thomsen disease myotonia congenita (CLCN1 variant that affects function). Our findings and data suggest a possible involvement of SCN4A variants in the pathophysiological mechanism underlying the development of a spontaneous or drug-induced type 1 electrocardiographic pattern and the occurrence of malignant arrhythmias in some patients with Brugada syndrome.

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Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation?

Cited by 15 publications

References 13 publications

Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

Andersen's syndrome: A distinct periodic paralysis

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

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