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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:0080445
Term: developmental and epileptic encephalopathy 13
Definition: A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24888894/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22365152 "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)11554173CTDCTD Direct Evidence: marker/mechanism 
Scn8a ISOSCN8A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13PMID:12374766 PMID:15525788 PMID:15800189 PMID:17576681 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:23708187 PMID:23934111 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235738 PMID:26235739 PMID:26252990 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26677014 PMID:26680202 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27267376 PMID:27375106 PMID:27779742 PMID:27864847 PMID:27875746 PMID:28135719 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28708303 PMID:28735751 PMID:28923014 PMID:28973083 PMID:29100083 PMID:29186148 PMID:29263050 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30078772 PMID:30171078 PMID:30185235 PMID:30615093 PMID:30951195 PMID:31026061 PMID:31402610 PMID:31680123 PMID:31715021 PMID:31780880 PMID:31904124 PMID:32581362 PMID:32845893 PMID:32901917 PMID:32916281 PMID:33201365 PMID:34431999 PMID:35188110 PMID:35599849 PMID:35701389 PMID:9536098
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