Sodium Channelopathies of Skeletal Muscle

Cannon, Stephen C.

doi:10.1007/164_2017_52

Cited by 113 publications

(127 citation statements)

References 94 publications

(136 reference statements)

Supporting

Mentioning

123

Contrasting

Unclassified

Order By: Relevance

“…All treated individuals showed clinical and instrumental data, typical of PC phenotype, as described elsewhere1 (table 1). Heterozygous missense mutation c4015C>T causing amino acid change T1313M was detected in all subjects.…”

Section: Resultsmentioning

confidence: 99%

“…Muscle paralysis, after paramyotonic attacks, may last from a few dozen minutes to 24–48 hours, thus reducing considerable quality of life and autonomy in daily activities. Among voltage-gating sodium channel blockers, mexiletine is considered the drug of choice in PC and other sodium channel myopathies 1. However, mexiletine efficacy has been investigated only in a few heterogeneous small PC series during a month-lasting follow-up.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Successful long-term therapy with flecainide in a family with paramyotonia congenita

Terracciano

Farina

Esposito

et al. 2018

J Neurol Neurosurg Psychiatry

View full text Add to dashboard Cite

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Successful long-term therapy with flecainide in a family with paramyotonia congenita

Terracciano

Farina

Esposito

et al. 2018

J Neurol Neurosurg Psychiatry

View full text Add to dashboard Cite

“…However, EEG clearly demonstrated epileptiform discharges during symptoms and interictally. 1 The p.A1156T mutation is present at low frequency (15 individuals) in the gnomAD database. The p.A1156T mutation has been described to cause myotonia and periodic paralysis with variable severity in several unrelated families.…”

Section: Discussionmentioning

confidence: 99%

“…1 It is the only sodium channel isoform expressed in adult skeletal muscle. 1 It is the only sodium channel isoform expressed in adult skeletal muscle.…”

Section: Introductionmentioning

confidence: 99%

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

et al. 2019

View full text Add to dashboard Cite

SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A mutations in association with sudden infant death syndrome. Laryngospasm has also been proposed as a contributory mechanism to some cases of sudden unexpected death in epilepsy (SUDEP). We report an infant with EEG‐confirmed seizures and recurrent apneas. Whole‐exome sequencing identified a known pathogenic mutation in the SCN4A gene that has been reported in several unrelated families with myotonic disorder. We propose that the SCN4A mutation contributed to the apneas in our case, irrespective of the underlying cause of the epilepsy. We suggest this supports the notion that laryngospasm may contribute to some cases of SUDEP, and implicates a possible shared mechanism between a proportion of sudden infant deaths and sudden unexpected deaths in epilepsy.

show abstract

“…Most hereditary HypoPP cases are caused by a mutation in either CACNA1S , encoding the pore‐forming α1‐subunit of the dihydropyridine receptor Cav1.1 (HypoPP type 1), or SCN4A , encoding the pore‐forming α‐subunit of the skeletal muscle voltage‐gated sodium channel Nav1.4 (HypoPP type 2) . The clinical features of type 1 and 2 HypoPP are indistinguishable . In Europe, the former is found in 70%–80% of patients, while the latter is observed in 10%.…”

Section: Introductionmentioning

confidence: 99%

Transient thyrotoxicosis‐aggravated attacks of paralysis in a patient with hereditary hypokalemic periodic paralysis type 2

Nagamatsu

Osaki

Morita

et al. 2019

Neurology & Clinical Neurosc

View full text Add to dashboard Cite

We report a case with hereditary hypokalemic paralysis type 2 in whom thyrotoxicosis aggravated his attacks of paralysis. He experienced paralytic attacks several times a year from 24 years of age and was clinically diagnosed with hypokalemic periodic paralysis. At 49 years of age, a laboratory examination showed normal thyroid function. At 57 years of age, transient thyrotoxicosis was accompanied with an increase of the frequency and severity of attacks. Gene analysis revealed a missense mutation (c.2015G>A, p.R672H) in SCN4A, a known pathogenic mutation for hypokalemic paralysis type 2. This case highlights the importance of checking thyroid function when the frequency and severity of attacks are increased in patients with periodic paralysis.

show abstract

Sodium Channelopathies of Skeletal Muscle

Cited by 113 publications

References 94 publications

Successful long-term therapy with flecainide in a family with paramyotonia congenita

Successful long-term therapy with flecainide in a family with paramyotonia congenita

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Transient thyrotoxicosis‐aggravated attacks of paralysis in a patient with hereditary hypokalemic periodic paralysis type 2

Contact Info

Product

Resources

About