A new clinical entity in T704M mutation in periodic paralysis

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dc.contributor.authorGun Bilgic D.
dc.contributor.authorAydin Gumus A.
dc.contributor.authorGerik Celebi H.B.
dc.contributor.authorBilgic A.
dc.contributor.authorUnaltuna Erginel N.
dc.contributor.authorCam F.S.
dc.date.accessioned2024-07-22T08:07:18Z
dc.date.available2024-07-22T08:07:18Z
dc.date.issued2020
dc.description.abstractPeriodic paralyses (PPs) are a group of rare disorders characterized by episodic, sudden-onset, flaccid paralysis of skeletal muscles usually resulting in complete recovery after the attacks. PPs are caused by abnormal, mostly potassium-sensitive excitability of the muscle tissue. Hypokalemic and hyperkalemic periodic paralysis (HypoKPP and HyperKPP) have been described according to their characteristic phenotypes and the serum potassium level during the attacks of weakness. The T704M mutation on the SCN4A gene is the most common mutation in HyperKPP. Different mutations of the SCN4A gene have also been reported in some cases of HypoKPP. In this study, a large Turkish family carrying the T704M mutation on the SCN4A gene with HypoKPP disease was examined. A similar history was noted in a total of 17 subjects in the pedigree. SCN4A gene of the patients was sequenced with Sanger sequencing. In this study, this mutation was associated with a HypoKKP diagnosis for the first time in the literature. The symptoms of hallucination and diplopia seen in patients had also never been indicated in the literature before. This report expands the phenotypic variability of the T704M mutation, further confirming the lack of genotype-phenotype correlation in SCN4A mutations. © 2020 Elsevier Ltd
dc.identifier.DOI-ID10.1016/j.jocn.2020.04.061
dc.identifier.issn09675868
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13906
dc.language.isoEnglish
dc.publisherChurchill Livingstone
dc.subjectAdult
dc.subjectFemale
dc.subjectHumans
dc.subjectHypokalemic Periodic Paralysis
dc.subjectMale
dc.subjectMuscle, Skeletal
dc.subjectMuscular Dystrophies
dc.subjectMutation
dc.subjectNAV1.4 Voltage-Gated Sodium Channel
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectPotassium
dc.subjectsodium channel Nav1.4
dc.subjectpotassium
dc.subjectSCN4A protein, human
dc.subjectsodium channel Nav1.4
dc.subjectadult
dc.subjectaged
dc.subjectArticle
dc.subjectclinical article
dc.subjectclinical feature
dc.subjectfemale
dc.subjectgene mutation
dc.subjectgenetic analysis
dc.subjectgenetic association
dc.subjectgenetic variability
dc.subjectgenetic variation
dc.subjectgenotype phenotype correlation
dc.subjecthuman
dc.subjecthypokalemic periodic paralysis
dc.subjectmale
dc.subjectmiddle aged
dc.subjectperiodic paralysis
dc.subjectpriority journal
dc.subjectSanger sequencing
dc.subjectSCN4A gene
dc.subjectvery elderly
dc.subjectyoung adult
dc.subjectgenetics
dc.subjectmuscular dystrophy
dc.subjectmutation
dc.subjectpedigree
dc.subjectphenotype
dc.subjectskeletal muscle
dc.titleA new clinical entity in T704M mutation in periodic paralysis
dc.typeArticle

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