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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:seizures
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Accession:MP:0002064 term browser browse the term
Definition:sudden and often acute manifestation of epileptic attack, sometimes convulsive
Synonyms:exact_synonym: Seizure
 broad_synonym: epilepsy;   neurological/behavioral: seizures/epilepsy;   neurological/behavioural: seizures/epilepsy;   seizures/epilepsy
 alt_id: MP:0000946;   MP:0001493
 xref: EFO:0000474;   HP:0001250;   MGI:2173569



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seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2d calcium/calmodulin-dependent protein kinase II delta IAGP DNA:SNP:intron:g.24024428G>T RGD PMID:20638246 RGD:6907065 NCBI chr 2:217,698,324...217,961,898
Ensembl chr 2:217,698,551...217,960,276
JBrowse link
G Plp1 proteolipid protein 1 IAGP RGD PMID:2479544 RGD:1358781 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:104,975,780...104,993,314
JBrowse link
G Plp1md proteolipid protein 1; Myelin-deficient IAGP RGD PMID:2479544 RGD:1358781
abnormal spike wave discharge term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml1 EMAP like 1 IAGP RGD PMID:32179177 RGD:407985868 NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:133,048,427...133,221,642
JBrowse link
G Eml1tish EMAP like 1, tish mutant IAGP RGD PMID:32179177 RGD:407985868
G Fmr1 fragile X messenger ribonucleoprotein 1 IMP compared to wild type controls RGD PMID:38107412 RGD:401976423 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:152,284,841...152,322,675
JBrowse link
G Fmr1em2Mcwi FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin IMP compared to wild type controls RGD PMID:38107412 RGD:401976423
G Gad1 glutamate decarboxylase 1 onset IMP RGD PMID:37830095 RGD:405855846 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759
JBrowse link
G Gad1em15Yyan glutamate decarboxylase 1; CRISPR/Cas9 induced mutant 15, Yyan onset IMP RGD PMID:37830095 RGD:405855846
audiogenic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi1 leucine-rich, glioma inactivated 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:245,455,691...245,497,036
Ensembl chr 1:245,455,599...245,499,095
JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP RGD PMID:30813600 RGD:14995940
G Lig1 DNA ligase 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:83,243,043...83,281,707
Ensembl chr 1:83,219,545...83,281,708
JBrowse link
G Wwox WW domain-containing oxidoreductase IAGP DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 RGD PMID:19500159 RGD:150429979 NCBI chr19:59,338,402...60,269,323
Ensembl chr19:59,341,233...60,269,441
JBrowse link
G Wwoxlde WW domain-containing oxidoreductase; lde mutant IAGP compared to wild type and heterozygotes RGD PMID:19500159 RGD:150429979
clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 induces IMP RGD PMID:30408474 RGD:26923909 NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo induces IMP RGD PMID:30408474 RGD:26923909
G Myo5a myosin VA IAGP DNA:rearrangement, deletion:exon:141-bp deletion position 1442-1582 RGD PMID:17185506 RGD:1600835 NCBI chr 8:84,692,524...84,860,564
Ensembl chr 8:84,692,910...84,856,265
JBrowse link
convulsive seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml1 EMAP like 1 IAGP RGD PMID:9236234 RGD:597538480 NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:133,048,427...133,221,642
JBrowse link
G Eml1tish EMAP like 1, tish mutant IAGP RGD PMID:9236234 RGD:597538480
G Kcna1 potassium voltage-gated channel subfamily A member 1 IAGP RGD PMID:22206926 RGD:10047237 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
decreased spike-wave discharge type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A IAGP RGD PMID:17196942 RGD:1598976 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599
JBrowse link
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant IAGP RGD PMID:17196942 RGD:1598976
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 treatment IMP compared to untreated RGD PMID:30408474 RGD:26923909 NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo treatment IMP compared to untreated RGD PMID:30408474 RGD:26923909
environmentally induced seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 IMP RGD PMID:28364455 RGD:12880397 NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:75,109,858...77,366,258
JBrowse link
G Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:28364455 RGD:12880397
G Kcna1 potassium voltage-gated channel subfamily A member 1 IAGP RGD PMID:22206926 RGD:10047237 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
increased kindling response term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1e calcium voltage-gated channel subunit alpha1 E IAGP RGD PMID:20638246 RGD:6907065 NCBI chr13:69,125,048...69,613,795
Ensembl chr13:69,132,305...69,612,983
JBrowse link
G Sv2a synaptic vesicle glycoprotein 2a IMP DNA:mutation:cds:p.L174Q(rat) RGD PMID:27265781 RGD:12792961 NCBI chr 2:186,430,363...186,446,161
Ensembl chr 2:186,430,345...186,448,065
JBrowse link
G Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, IMP RGD PMID:27265781 RGD:12792961
increased spike-wave discharge type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 onset IMP RGD PMID:30408474 RGD:26923909 NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo onset IMP RGD PMID:30408474 RGD:26923909
increased susceptibility to induction of seizure by inducing agent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi1 leucine-rich, glioma inactivated 1 IMP DNA:missense mutation:cds:p.L385R (c.1154T>G) RGD PMID:22589250 RGD:12792971 NCBI chr 1:245,455,691...245,497,036
Ensembl chr 1:245,455,599...245,499,095
JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP DNA:missense mutation:cds:p.L385R (c.1154T>G) RGD PMID:22589250 RGD:12792971
G Scn1a sodium voltage-gated channel alpha subunit 1 IMP RGD PMID:20410126 RGD:12792282 NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791
JBrowse link
G Scn1am1Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo IMP RGD PMID:20410126 RGD:12792282
G Scn1am2Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo IMP RGD PMID:20410126 RGD:12792282
increased susceptibility to pharmacologically induced seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sv2a synaptic vesicle glycoprotein 2a IMP DNA:mutation:cds:p.L174Q(rat) RGD PMID:27265781 RGD:12792961 NCBI chr 2:186,430,363...186,446,161
Ensembl chr 2:186,430,345...186,448,065
JBrowse link
G Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, IMP RGD PMID:27265781 RGD:12792961

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5432
    behavior/neurological phenotype 622
      abnormal behavior 621
        seizures 58
          abnormal seizure response to inducing agent + 27
          convulsive seizures + 21
          febrile seizures 0
          focal seizures 0
          nonconvulsive seizures + 22
          sporadic seizures 0
paths to the root