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GENE - TERM ANNOTATION REPORT
RGD ID:
1621393
Species:
Mus musculus
RGD Object:
Gene
Symbol:
Scn2a
Name:
sodium channel, voltage-gated, type II, alpha
Acc ID:
DOID:0050709
Term:
early infantile epileptic encephalopathy
Definition:
A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Definition Source(s):
http://en.wikipedia.org/wiki/Ohtahara_syndrome
"DO" "DO",
http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm
"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 Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
Scn2a
ISO
SCN2A (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
PMID:15048894
PMID:15133511
PMID:16865694
PMID:17021166
PMID:17347258
PMID:17470132
PMID:17561957
PMID:18327258
PMID:18479388
PMID:18479393
PMID:18930999
PMID:19304393
PMID:19400878
PMID:20358599
PMID:20371507
PMID:20522430
PMID:21068128
PMID:21258341
PMID:21416599
PMID:21692795
PMID:21719429
PMID:22495306
PMID:23016767
PMID:23020937
PMID:23184456
PMID:23559409
PMID:23662938
PMID:23935176
PMID:24650168
PMID:24876116
PMID:25253744
PMID:25439579
PMID:25492405
PMID:25524840
PMID:25741868
PMID:25995458
PMID:26068938
PMID:26993267
PMID:27491411
PMID:27779742
PMID:27781031
PMID:28379373
PMID:28492532
PMID:28709814
PMID:29068549
PMID:29100083
PMID:29655203
PMID:30381472
PMID:30619928
PMID:31054490
PMID:31302675
PMID:31904120
PMID:32400968
PMID:34782754
PMID:35431799
PMID:37578743
Scn2a
ISO
SCN2A (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
PMID:15048894
PMID:16865694
PMID:17347258
PMID:17470132
PMID:17561957
PMID:18327258
PMID:18479388
PMID:18479393
PMID:18930999
PMID:19304393
PMID:19400878
PMID:20371507
PMID:20522430
PMID:21068128
PMID:21258341
PMID:21416599
PMID:21692795
PMID:21719429
PMID:22495306
PMID:23016767
PMID:23020937
PMID:23184456
PMID:23559409
PMID:23662938
PMID:23935176
PMID:24650168
PMID:24876116
PMID:25253744
PMID:25439579
PMID:25492405
PMID:25524840
PMID:25741868
PMID:25995458
PMID:26068938
PMID:26993267
PMID:27491411
PMID:27779742
PMID:27781031
PMID:28379373
PMID:28492532
PMID:29068549
PMID:29100083
PMID:29655203
PMID:30619928
PMID:34782754
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