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GENE - TERM ANNOTATION REPORT

RGD ID: 3636
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scn4a
Name: sodium voltage-gated channel alpha subunit 4
Acc ID: DOID:14452
Term: hypokalemic periodic paralysis
Definition: An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)
Definition Source(s): MESH:D020514
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Scn4a ISOSCN4A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11912116
Scn4a ISOSCN4A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysisPMID:10206477 PMID:10218481 PMID:10366610 PMID:10944223 PMID:11309455 PMID:11558801 PMID:11723275 PMID:11744749 PMID:11912116 PMID:12872329 PMID:12933953 PMID:1310898 PMID:1338909 PMID:14504341 PMID:14518676 PMID:14617673 PMID:15482957 PMID:15534250 PMID:15583983 PMID:15596759 PMID:15642860 PMID:15790667 PMID:1659948 PMID:16870577 PMID:17330043 PMID:17334961 PMID:17395131 PMID:17576681 PMID:17591984 PMID:18166706 PMID:18337100 PMID:18337730 PMID:18824591 PMID:19077043 PMID:19225109 PMID:19770477 PMID:19840739 PMID:20076800 PMID:20445432 PMID:20660662 PMID:21220685 PMID:2173143 PMID:22253644 PMID:22253645 PMID:22653516 PMID:22926674 PMID:23019082 PMID:23473731 PMID:23516313 PMID:23589580 PMID:23771340 PMID:23810313 PMID:25024265 PMID:25213595 PMID:25483584 PMID:25724373 PMID:25741868 PMID:25839108 PMID:26252573 PMID:26256659 PMID:26427606 PMID:26467025 PMID:26834636 PMID:27199537 PMID:27415035 PMID:27922499 PMID:28325641 PMID:28330959 PMID:28492532 PMID:28662944 PMID:29391559 PMID:29790872 PMID:29946067 PMID:30172468 PMID:30611854 PMID:30647473 PMID:30931713 PMID:31567646 PMID:32026975 PMID:32276507 PMID:32849172 PMID:34008892 PMID:34418069 PMID:7809121 PMID:8044656 PMID:8388676 PMID:8583225 PMID:8740371 PMID:8910215 PMID:9130156 PMID:9392583 PMID:9536098 PMID:9886942
Scn4a ISSScn4a (Mus musculus)13592920MouseDOOMIM:170400 | OMIM:613345 
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