RGD Reference Report - Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A. - Rat Genome Database

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

Authors: Lane, Andrew H  Markarian, Katherine  Braziunene, Ieva 
Citation: Lane AH, etal., J Pediatr Endocrinol Metab. 2004 Dec;17(12):1679-82.
RGD ID: 13208529
Pubmed: PMID:15645704   (View Abstract at PubMed)

Thyrotoxic hypokalemic periodic paralysis (THypoKPP) is an uncommon disorder with an unknown etiology. We describe a family in which the proband presented with paralysis and thyrotoxicosis. Because of similarities between familial hypokalemic periodic paralysis (FHypoKPP) and THypoKPP, we sequenced exon 12 of the SCN4A gene, which is known to be mutated in FHypoKPP. We identified an Arg672Ser mutation in the proband and his affected father, as well as the proband's brother. As the brother has paralysis without thyrotoxicosis, our finding suggests that the genetic spectrum of FHypoKPP and THypoKPP overlap. We speculate that thyroid hormone may exert a threshold or permissive effect in hypokalemic periodic paralysis. Non-thyrotoxic family members of individuals with THypoKPP may have an unrecognized risk for paralysis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hypokalemic Periodic Paralysis, Type 2  IAGP 13208529DNA : missense mutation : exon : p.R672SRGD 
Hypokalemic Periodic Paralysis, Type 2  ISOSCN4A (Homo sapiens)13208529; 13208529DNA : missense mutation : exon : p.R672SRGD 

Objects Annotated

Genes (Rattus norvegicus)
Scn4a  (sodium voltage-gated channel alpha subunit 4)

Genes (Mus musculus)
Scn4a  (sodium channel, voltage-gated, type IV, alpha)

Genes (Homo sapiens)
SCN4A  (sodium voltage-gated channel alpha subunit 4)


Additional Information