Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Fu, Chao; Wang, Zhenyu; Wang, Libo; Li, Jia; Sang, Qiuling; Chen, Jiajun; Qi, Ling; Jin, Hui; Liu, Xiaoyang

doi:10.3389/fneur.2018.00430

Cited by 6 publications

(4 citation statements)

References 12 publications

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“…Twelve reported SCN4A mutations correlated well with previously characterized clinical subtypes [10][11][12][21][22][23][24][25][26]. A hotspot mutation p.Arg675Gln was revealed with a proportion of 32.5% (13/40) in our cohort.…”

Section: Nav14 Mutations Identified In the Chinese Cohortsupporting

confidence: 85%

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Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations

Sun

Luo

Suetterlin

et al. 2021

Neuromuscular Disorders

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Section: Nav14 Mutations Identified In the Chinese Cohortsupporting

confidence: 85%

“…In European populations, SCN4A-related channelopathies have a prevalence of 0.39-0.87/100,000 [7,8]. However, only a small 4 number of case series have been reported, in Asian populations [9][10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations

Sun

Luo

Suetterlin

et al. 2021

Neuromuscular Disorders

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“…Mutations of M1592V, V781I, R675G, R675W, R675H, R675Q, and T704M in SCN4A have been reported to cause NormoKPP. 5,[14][15][16][17][18][19] Here, we report a pathological mutation in the SCN4A gene in a family presenting with hereditary NormoKPP. In the present study, wholeexome and Sanger sequencing identified C/T heterozygosity in SCN4A at nucleotide position 2111 of exon 13.…”

Section: Discussionmentioning

confidence: 99%

Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

Tan

Xie

et al. 2020

J Int Med Res

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Objectives Normokalemic periodic paralysis (NormoKPP) of skeletal muscle is an autosomal dominant disorder caused by mutations in the gene encoding voltage-gated sodium channel protein type 4 subunit alpha ( SCN4A), which leads to ion channel dysfunction. Little is known about the relationship between genotype and the clinical symptoms of NormoKPP. The present study aimed to evaluate the genetic variation in a large Chinese family with NormoKPP. The patients in this pedigree did not respond to saline treatment, but calcium gluconate treatment was effective. Methods We performed a series of clinical examinations and genetic analyses, using whole-exome and Sanger sequencing, to examine the mutation status of SCN4A in a Chinese family segregating for NormoKPP. Results Whole-exome sequencing revealed a c.2111C>T substitution in SCN4A in most of the affected family members. This mutation results in the amino acid substitution p.T704M. Conclusions These results support a causative role of this mutation in SCN4A in NormoKPP, and provide information about the relationship between genotype and atypical clinical symptoms.

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“…Recently, novel mutations in SCN4A and CACNA1S genes have been identified and pathogenic mechanisms are still unclear. 4,7 Thyrotoxic periodic paralysis (TPP) TPP is associated with hypokalaemia. This is particularly common among people of East Asian descent, 8 suggesting a genetic predisposition.…”

Section: Normokalaemic Periodic Paralysis (Normokpp)mentioning

confidence: 99%

Periodic paralysis: what clinician needs to know?

Dissanayake¹,

Padmaperuma²

2018

EMIJ

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Acute flaccid paralysis is a diagnostic challenge in the emergency department. Periodic paralysis syndromes are characterized by recurrent episodes of flaccid hyporeflexic paralysis in association with potassium abnormalities. Periodic paralysis with hypokalaemia may be genetic, secondary to systemic hypokalaemia or associated with thyrotoxicosis. Genetic syndrome result from mutations in sodium (SCN4A) or calcium (CACNA1S) channels, inherited in autosomal dominant pattern. Diagnosis is established by demonstrating recurrent nature, family history and abnormal serum potassium during an episode. Thyrotoxic periodic paralysis is often sporadic but possibly has a genetic predisposition. Presence of thyrotoxicosis and hypokalaemia during an episode confirms the diagnosis. Management of acute episode is by cautiously correction of potassium abnormality. Long term therapy depends on the cause. Pathogenic mechanisms, differential diagnosis and treatment principles are discussed.

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Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Cited by 6 publications

References 12 publications

Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations

Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations

Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

Periodic paralysis: what clinician needs to know?

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