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Pediatric Disease Annotations & Medicines



   febrile seizures
  

Disease ID 621
Disease febrile seizures
Definition
Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)
Synonym
[d]convulsions, febrile
[d]convulsions, febrile (context-dependent category)
[d]convulsions, febrile (situation)
[d]pyrexial convulsion
convulsion febrile
convulsion fever
convulsion, febrile
convulsion, fever
convulsion, pyrexial
convulsions febrile seizures
convulsions, febrile
convulsions, fever
convulsions, pyrexial
febrile convulsion
febrile convulsion (finding)
febrile convulsion seizure
febrile convulsion seizures
febrile convulsions
febrile convulsions (finding)
febrile convulsions (simple), unspecified
febrile convulsions nos
febrile fit
febrile fits
febrile seizure
febrile seizure (from fever)
febrile seizures nos
fever convulsion
fever convulsions
fever induced seizures
fever seizure
fever seizures
fevers seizures
fit, febrile
fits, febrile
pyrexial convulsion
pyrexial convulsions
pyrexial seizure
pyrexial seizures
seizure febrile
seizure fever
seizure, febrile
seizure, febrile convulsion
seizure, fever
seizure, pyrexial
seizures fever
seizures, febrile
seizures, febrile [disease/finding]
seizures, febrile convulsion
seizures, febrile, in early childhood
seizures, fever
seizures, generalized, associated with fever
seizures, pyrexial
UMLS
C0009952
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:27)
C0014544  |  epilepsy  |  95
C0014544  |  epilepsies  |  5
C0017160  |  gastroenteritis  |  4
C0014556  |  temporal lobe epilepsy  |  4
C0343363  |  rotavirus gastroenteritis  |  3
C0679466  |  cognitive deficits  |  2
C0025007  |  measles  |  2
C0014547  |  partial epilepsy  |  2
C0085437  |  bacterial meningitis  |  1
C0004096  |  asthma  |  1
C0042769  |  viral infection  |  1
C0042769  |  viral infections  |  1
C0014553  |  absence epilepsy  |  1
C0031069  |  familial mediterranean fever  |  1
C0014038  |  encephalitis  |  1
C0020598  |  hypoglycemia  |  1
C0015230  |  exanthem  |  1
C0751122  |  dravet syndrome  |  1
C0015231  |  exanthem subitum  |  1
C0162316  |  iron deficiency anemia  |  1
C0002871  |  anemia  |  1
C0042769  |  virus infection  |  1
C0014553  |  childhood absence epilepsy  |  1
C0159020  |  neonatal seizures  |  1
C0035021  |  recurrent fever  |  1
C0243010  |  viral encephalitis  |  1
C0035309  |  retinopathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:11)
SCN1A  |  6323  |  CTD_human;GWASCAT
GPANK1  |  7918  |  GWASCAT
SCN1B  |  6324  |  CTD_human
GABRG2  |  2566  |  CTD_human
STX1B  |  112755  |  CTD_human
ANO3  |  63982  |  CTD_human
SCN2A  |  6326  |  CTD_human;GWASCAT
CD46  |  4179  |  GWASCAT
IFI44L  |  10964  |  GWASCAT
CSNK2B  |  1460  |  GWASCAT
IMPA2  |  3613  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:23)
1137  |  CHRNA4  |  infer
1268  |  CNR1  |  infer
2566  |  GABRG2  |  infer
2697  |  GJA1  |  infer
3553  |  IL1B  |  infer
6326  |  SCN2A  |  infer
6508  |  SLC4A3  |  infer
6548  |  SLC9A1  |  infer
6550  |  SLC9A3  |  infer
627  |  BDNF  |  infer
1141  |  CHRNB2  |  infer
1455  |  CSNK1G2  |  infer
610  |  HCN2  |  infer
3586  |  IL10  |  infer
3552  |  IL1A  |  infer
3554  |  IL1R1  |  infer
3557  |  IL1RN  |  infer
3565  |  IL4  |  infer
3569  |  IL6  |  infer
3613  |  IMPA2  |  infer
4852  |  NPY  |  infer
57526  |  PCDH19  |  infer
7124  |  TNF  |  infer
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 621
Disease febrile seizures
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:23)
HP:0001250  |  Seizures  |  9
HP:0001945  |  Fever  |  5
HP:0100543  |  Cognitive deficits  |  2
HP:0001298  |  Encephalopathy  |  2
HP:0002197  |  Generalized seizures  |  1
HP:0000010  |  Frequent urinary tract infections  |  1
HP:0001268  |  Mental deterioration  |  1
HP:0000573  |  Retinal hemorrhage  |  1
HP:0002099  |  Asthma  |  1
HP:0002902  |  Hyponatremia  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0001943  |  Hypoglycemia  |  1
HP:0001903  |  Anemia  |  1
HP:0006846  |  Acute encephalopathy  |  1
HP:0001891  |  Iron-deficiency anemia  |  1
HP:0002883  |  Rapid breathing  |  1
HP:0002383  |  Encephalitis  |  1
HP:0000988  |  Exanthem  |  1
HP:0007018  |  Attention deficits  |  1
HP:0001950  |  Respiratory alkalosis  |  1
HP:0001948  |  Alkalosis  |  1
HP:0003401  |  Paresthesia  |  1
HP:0011947  |  Respiratory infection  |  1
Disease ID 621
Disease febrile seizures
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C0424755  |  fever
C0042769  |  viral infections
C0014556  |  temporal lobe epilepsy
C0014548  |  generalized epilepsies
C0014544  |  epilepsy
C0014544  |  epilepsies
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:5)
C0014544  |  epilepsy  |  93
C0014556  |  temporal lobe epilepsy  |  4
C0014544  |  epilepsies  |  3
C0015967  |  fever  |  3
C0042769  |  viral infections  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:41)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs11105468253446906323SCN1Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2773006642014LOC1053698901289935056TA
rs11105468253446906326SCN2Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2463627152014LOC1053698901289935056TA
rs111054682534469063982ANO3umls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.1202714422014LOC1053698901289935056TA
rs114444506253446906326SCN2Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2463627152014ANO31126325284TC
rs114444506253446906323SCN1Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2773006642014ANO31126325284TC
rs1144445062534469063982ANO3umls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.1202714422014ANO31126325284TC
rs121909673219306032566GABRG2umls:C0009952BeFreeThe R46W mutation is located in a region homologous to a GABA(A) receptor γ2 subunit missense mutation, R82Q, that is associated with CAE and febrile seizures in humans.0.1426130092011GABRG25162093965GA
rs121917748176412566326SCN2Aumls:C0009952BeFreeWe attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures.0.2463627152007SCN2A2165308751CT
rs121917748176412562566GABRG2umls:C0009952BeFreeWe attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures.0.1426130092007SCN2A2165308751CT
rs121917748113716486326SCN2Aumls:C0009952BeFreeHere, we report a mutation resulting in an amino acid exchange (R188W) [corrected] in the gene encoding the alpha-subunit of neuronal voltage-gated Na(+) channel type II (Na(v)1.2) in a patient with FS associated with afebrile seizures.0.2463627152001SCN2A2165308751CT
rs1300408325344690101929680LOC101929680umls:C0009952GWASCATCommon variants associated with general and MMR vaccine-related febrile seizures.0.122014SCN1A;LOC1019296802166088857AG
rs13004083253446906323SCN1Aumls:C0009952GWASCATFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2773006642014SCN1A;LOC1019296802166088857AG
rs1318653253446904179CD46umls:C0009952BeFreeTwo loci were distinctly associated with MMR-related febrile seizures, harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 × 10(-12) versus controls, P = 1.2 × 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 × 10(-11) versus controls, P = 1.6 × 10(-9) versus MMR-unrelated febrile seizures).0.1202714422014C1orf1321207841577TC
rs13186532534469010964IFI44Lumls:C0009952BeFreeTwo loci were distinctly associated with MMR-related febrile seizures, harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 × 10(-12) versus controls, P = 1.2 × 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 × 10(-11) versus controls, P = 1.6 × 10(-9) versus MMR-unrelated febrile seizures).0.1202714422014C1orf1321207841577TC
rs16850331200419416326SCN2Aumls:C0009952BeFreeTwo SCN2A SNPs (rs3943809 and rs16850331) were associated by case-control with a subgroup with IGE and history of febrile seizures and also by transmission disequilibrium test (TDT) in parent-proband trios.0.2463627152010SCN2A2165292743CT
rs1799724190554873569IL6umls:C0009952BeFreeThe promoter SNPs of four inflammatory cytokine genes (IL6 -572C/G, IL8 -251A/T, IL10 -592A/C and TNFA -1037C/T) were examined in 249 patients with FS (186 simple and 63 complex FS) and 225 controls.0.0088156242009LTA;TNF631574705CT
rs1799724190554877124TNFumls:C0009952BeFreeThe promoter SNPs of four inflammatory cytokine genes (IL6 -572C/G, IL8 -251A/T, IL10 -592A/C and TNFA -1037C/T) were examined in 249 patients with FS (186 simple and 63 complex FS) and 225 controls.0.005548392009LTA;TNF631574705CT
rs211014176412562566GABRG2umls:C0009952BeFreeWe attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures.0.1426130092007GABRG25162149412CA
rs211014176412566326SCN2Aumls:C0009952BeFreeWe attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures.0.2463627152007GABRG25162149412CA
rs211037231409952566GABRG2umls:C0009952BeFreeThis study showed significant association of GABRG2 rs211037 with susceptibility to FS, caused by two studies with small sample sizes, however the possibility of false positive results due to the effect of significant studies for FS cannot be excluded.0.1426130092013GABRG25162101274CT
rs211037240612002566GABRG2umls:C0009952BeFreeGABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.0.1426130092014GABRG25162101274CT
rs2724384253446904179CD46umls:C0009952GWASCATTwo loci were distinctly associated with MMR-related febrile seizures, harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 × 10(-12) versus controls, P = 1.2 × 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 × 10(-11) versus controls, P = 1.6 × 10(-9) versus MMR-unrelated febrile seizures).0.1202714422014CD461207756858GA
rs2732592534469010964IFI44Lumls:C0009952BeFreeTwo loci were distinctly associated with MMR-related febrile seizures, harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 × 10(-12) versus controls, P = 1.2 × 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 × 10(-11) versus controls, P = 1.6 × 10(-9) versus MMR-unrelated febrile seizures).0.1202714422014IFI44L178628133AG
rs273259253446904179CD46umls:C0009952BeFreeTwo loci were distinctly associated with MMR-related febrile seizures, harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 × 10(-12) versus controls, P = 1.2 × 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 × 10(-11) versus controls, P = 1.6 × 10(-9) versus MMR-unrelated febrile seizures).0.1202714422014IFI44L178628133AG
rs2732592534469010964IFI44Lumls:C0009952GWASCATTwo loci were distinctly associated with MMR-related febrile seizures, harboring the interferon-stimulated gene IFI44L (rs273259: P = 5.9 × 10(-12) versus controls, P = 1.2 × 10(-9) versus MMR-unrelated febrile seizures) and the measles virus receptor CD46 (rs1318653: P = 9.6 × 10(-11) versus controls, P = 1.6 × 10(-9) versus MMR-unrelated febrile seizures).0.1202714422014IFI44L178628133AG
rs2910164253192293146HMGB1umls:C0009952BeFreeAssociation of genetic polymorphism of pre-microRNA-146a rs2910164 and serum high-mobility group box 1 with febrile seizures in Egyptian children.0.0002714422014LOC285628;MIR146A5160485411CG
rs291016425319229406938MIR146Aumls:C0009952BeFreeAssociation of genetic polymorphism of pre-microRNA-146a rs2910164 and serum high-mobility group box 1 with febrile seizures in Egyptian children.0.0002714422014LOC285628;MIR146A5160485411CG
rs3130618253446907918GPANK1umls:C0009952GWASCATCommon variants associated with general and MMR vaccine-related febrile seizures.0.122014CSNK2B;GPANK1631664357CA
rs3130618253446901460CSNK2Bumls:C0009952GWASCATCommon variants associated with general and MMR vaccine-related febrile seizures.0.122014CSNK2B;GPANK1631664357CA
rs3769955253446906326SCN2Aumls:C0009952GWASCATFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2463627152014SCN2A2165378122CT
rs37699552534469063982ANO3umls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.1202714422014SCN2A2165378122CT
rs3769955253446906323SCN1Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2773006642014SCN2A2165378122CT
rs3769955253446906326SCN2Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2463627152014SCN2A2165378122CT
rs3812718225787036323SCN1Aumls:C0009952BeFreeFailure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis.0.2773006642012SCN1A2166053034CT
rs3812718240763506323SCN1Aumls:C0009952BeFreeSCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.0.2773006642013SCN1A2166053034CT
rs38660211815279867627BDNFumls:C0009952BeFreeBrain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in febrile seizures.0.0029957922004NANANANANA
rs3943809200419416326SCN2Aumls:C0009952BeFreeTwo SCN2A SNPs (rs3943809 and rs16850331) were associated by case-control with a subgroup with IGE and history of febrile seizures and also by transmission disequilibrium test (TDT) in parent-proband trios.0.2463627152010SCN2A2165344371AG
rs6432860253446906323SCN1Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2773006642014SCN1A2166041354AG,T
rs6432860253446906323SCN1Aumls:C0009952GWASCATFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2773006642014SCN1A2166041354AG,T
rs64328602534469063982ANO3umls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.1202714422014SCN1A2166041354AG,T
rs6432860253446906326SCN2Aumls:C0009952BeFreeFurthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).0.2463627152014SCN1A2166041354AG,T
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:3)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0009952carbamazepineD002220298-46-4seizures, febrileMESH:D003294therapeutic6504639
C0009952phenytoinD01067257-41-0seizures, febrileMESH:D003294therapeutic20728059
C0009952valproic acidD01463599-66-1seizures, febrileMESH:D003294therapeutic6796420
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)