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GENE - TERM ANNOTATION REPORT

RGD ID: 13973885
Species: Sus scrofa
RGD Object: Gene
Symbol: SCN8A
Name: sodium voltage-gated channel alpha subunit 8
Acc ID: DOID:0081118
Term: benign familial infantile seizures 5
Definition: A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. (DO)
Definition Source(s): PMID:23086396 "DO" "DO"
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)7240710OMIM  
SCN8A ISOSCN8A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5PMID:12374766 PMID:17576681 PMID:17881658 PMID:18414213 PMID:22365152 PMID:24194747 PMID:24874546 PMID:24888894 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25666757 PMID:25741868 PMID:25785782 PMID:25951352 PMID:26029160 PMID:26235739 PMID:26467025 PMID:26647175 PMID:26677014 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27875746 PMID:28387369 PMID:28492532 PMID:28923014 PMID:29186148 PMID:29432985 PMID:29720203 PMID:30171078 PMID:30185235 PMID:30615093 PMID:30951195 PMID:31026061 PMID:31402610 PMID:31675620 PMID:31715021 PMID:31904124 PMID:34431999 PMID:35701389 PMID:36198807 PMID:9536098
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