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GENE - TERM ANNOTATION REPORT

RGD ID: 3638
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scn8a
Name: sodium voltage-gated channel alpha subunit 8
Acc ID: DOID:9006425
Term: Episodic Ataxia Type 9
Definition: A neurologic disorder characterized by onset of ataxic episodes in the first years of life. Caused by heterozygous mutation in the SCN2A gene on chromosome 2q23. (OMIM)
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)
Scn8a ISOSCN8A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complex neurodevelopmental disorderPMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:23708187 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25951352 PMID:26029160 PMID:26235739 PMID:26467025 PMID:26647175 PMID:26677014 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27267376 PMID:27375106 PMID:27779742 PMID:27864847 PMID:27875746 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29186148 PMID:29588952 PMID:29720203 PMID:29726066 PMID:30171078 PMID:30185235 PMID:30615093 PMID:31026061 PMID:31335965 PMID:31402610 PMID:31625145 PMID:31715021 PMID:31887642 PMID:32581362 PMID:33004838 PMID:34431999
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