MCID: FBR031
MIFTS: 53

Febrile Seizures

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures

MalaCards integrated aliases for Febrile Seizures:

Name: Febrile Seizures 53 36 29 6
Febrile Convulsions 71 32
Seizures Febrile 54

Classifications:



External Ids:

KEGG 36 H00783
ICD10 32 R56.0
UMLS 71 C0009952

Summaries for Febrile Seizures

NINDS : 53 Febrile seizures are convulsions or seizures in infants or small children that are brought on by a fever or febrile illness. The seizures may come before the fever. Most often during a febrile seizure, a child loses consciousness and shakes uncontrollably. Less commonly, a child becomes rigid or has twitches in only a portion of the body. Most febrile seizures last a minute or two; some can be as brief as a few seconds, while others may last for more than 15 minutes. Approximately one in every 25 children will have at least one febrile seizure. Febrile seizures usually occur in children between the ages of 6 months and 5 years, with the risk peaking in the second year of life. The older a child is when the first febrile seizure occurs, the less likely that child is to have more febrile seizures as they will spend less time in the age group at risk.  A few factors appear to boost a child's risk of having recurrent febrile seizures, including a family history of febrile seizures in a first- or second-degree relative, a young age (less than 18 months) at the first febrile seizure, having a lower peak temperature during the illness when the febrile seizure occurs, and the febrile seizure occurring within an hour of recognized fever.

MalaCards based summary : Febrile Seizures, also known as febrile convulsions, is related to generalized epilepsy with febrile seizures plus, type 1 and genetic epilepsy with febrile seizures plus, and has symptoms including seizures, fever and other convulsions. An important gene associated with Febrile Seizures is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Dopaminergic synapse and Neuroactive ligand-receptor interaction. The drugs Diclofenac and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and testes, and related phenotypes are behavior/neurological and growth/size/body region

KEGG : 36 Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy phenotypes such as Dravet syndrome (SMEI) have also been described within GEFS+ families. A significant genetic component exists for susceptibility to FS and GEFS+. Extensive genetic studies have shown that at least ten loci are responsible for FS. Furthermore, mutations in the voltage-gated sodium channel subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor subunit genes (GABRG2 and GABRD) have been identified in GEFS+.

Wikipedia : 74 A febrile seizure, also known as a fever fit or febrile convulsion, is a seizure associated with a high... more...

Related Diseases for Febrile Seizures

Diseases in the Febrile Seizures family:

Febrile Seizures, Familial, 1 Febrile Seizures, Familial, 2
Febrile Seizures, Familial, 4 Febrile Seizures, Familial, 8
Febrile Seizures, Familial, 6 Febrile Seizures, Familial, 5
Febrile Seizures, Familial, 7 Febrile Seizures, Familial, 9
Febrile Seizures, Familial, 10 Febrile Seizures, Familial, 11
Familial Febrile Seizures

Diseases related to Febrile Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 330)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 1 34.8 SCN1B SCN1A GABRG2
2 genetic epilepsy with febrile seizures plus 34.6 SCN9A SCN2A SCN1A
3 febrile seizures, familial, 11 34.4 SCN1A GABRG2 GABRD CPA6
4 generalized epilepsy with febrile seizures plus, type 2 34.4 SCN9A SCN1B SCN1A GABRG2 GABRD
5 febrile seizures, familial, 8 34.3 SCN1B SCN1A GABRG2 GABRD ADGRV1
6 febrile seizures, familial, 2 34.2 SCN2A SCN1B SCN1A GABRG2
7 febrile seizures, familial, 5 34.2 SCN2A SCN1B SCN1A GABRG2
8 febrile seizures, familial, 4 34.1 SCN1B SCN1A GABRG2 GABRD ADGRV1
9 febrile seizures, familial, 6 34.0 SCN1B SCN1A IMPA2 GABRG2
10 generalized epilepsy with febrile seizures plus, type 7 33.9 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2 GABRD
11 febrile seizures, familial, 1 33.6 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
12 familial febrile seizures 32.9 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
13 seizure disorder 32.4 SCN2A SCN1A KCNQ2
14 temporal lobe epilepsy 31.2 SCN1B SCN1A CPA6
15 scn1a seizure disorders 30.9 SCN9A SCN1A
16 myoclonic epilepsy of infancy 30.7 SCN8A SCN1A GABRG2
17 benign familial neonatal epilepsy 30.5 SCN8A SCN2A SCN1B SCN1A PRRT2 KCNQ2
18 generalized epilepsy with febrile seizures plus 30.3 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A-AS1
19 visual epilepsy 30.0 STX1B SCN8A SCN2A SCN1B SCN1A PRRT2
20 migraine, familial hemiplegic, 2 29.9 SCN1A PRRT2
21 epilepsy with generalized tonic-clonic seizures 29.9 SCN2A SCN1B SCN1A GABRG2 GABRD
22 autism spectrum disorder 29.6 SCN2A SCN1A HCN1 GABRG2 GABRD
23 epileptic encephalopathy, early infantile, 6 29.6 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A
24 seizures, benign familial infantile, 3 29.5 SCN2A KCNQ2
25 childhood absence epilepsy 29.5 SCN8A SCN2A SCN1B SCN1A PRRT2 KCNQ2
26 brugada syndrome 29.3 SCN9A SCN8A SCN2A SCN1B SCN1A
27 epilepsy, familial temporal lobe, 5 29.2 SCN9A SCN1B SCN1A GABRG2 GABRD CPA6
28 early myoclonic encephalopathy 29.2 SCN8A SCN2A SCN1B SCN1A KCNQ2 GABRG2
29 autism 29.1 SCN8A SCN2A SCN1A HCN1 GABRG2 GABRD
30 migraine with or without aura 1 28.9 SCN9A SCN8A SCN2A SCN1A PRRT2 KCNQ2
31 epilepsy, nocturnal frontal lobe, 1 28.8 SCN1B SCN1A KCNQ2 GABRG2 CHRNB2
32 west syndrome 28.5 SCN8A SCN2A SCN1B SCN1A KCNQ2 GABRG2
33 autosomal dominant nocturnal frontal lobe epilepsy 28.4 SCN2A SCN1B SCN1A KCNQ2 GABRG2 GABRD
34 early onset absence epilepsy 28.4 SCN2A SCN1B SCN1A KCNQ2 GABRG2 CHRNB2
35 focal epilepsy 28.3 SCN8A SCN2A SCN1B SCN1A KCNQ2 GABRG2
36 epilepsy 28.2 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A-AS1
37 benign neonatal seizures 28.0 SCN8A SCN2A SCN1B SCN1A KCNQ2 GABRG2
38 epilepsy, myoclonic juvenile 27.8 STX1B SCN2A SCN1B SCN1A KCNQ2 GABRG2
39 epilepsy, idiopathic generalized 27.6 SCN9A SCN8A SCN2A SCN1B SCN1A PRRT2
40 benign familial infantile epilepsy 27.5 SCN9A SCN8A SCN2A SCN1B SCN1A PRRT2
41 generalized epilepsy with febrile seizures plus, type 9 12.9
42 generalized epilepsy with febrile seizures plus, type 10 12.8
43 generalized epilepsy with febrile seizures plus, type 8 12.8
44 generalized epilepsy with febrile seizures plus, type 4 12.8
45 generalized epilepsy with febrile seizures plus, type 6 12.8
46 febrile seizures, familial, 7 12.7
47 febrile seizures, familial, 9 12.7
48 febrile seizures, familial, 10 12.7
49 mental retardation, keratoconus, febrile seizures, and sinoatrial block 12.5
50 epilepsy, idiopathic generalized 10 12.4

Graphical network of the top 20 diseases related to Febrile Seizures:



Diseases related to Febrile Seizures

Symptoms & Phenotypes for Febrile Seizures

UMLS symptoms related to Febrile Seizures:


seizures, fever, other convulsions, symptomatic seizures

MGI Mouse Phenotypes related to Febrile Seizures:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 ADGRV1 CHAT CHRNB2 GABRD GABRG2 HCN1
2 growth/size/body region MP:0005378 10.1 CHAT CHRNB2 GABRG2 HCN1 KCNQ2 MFSD2A
3 nervous system MP:0003631 10.09 ADGRV1 CHAT CHRNB2 GABRD GABRG2 HCN1
4 mortality/aging MP:0010768 10.07 ADGRV1 CHAT CHRNB2 GABRD GABRG2 KCNQ2
5 normal MP:0002873 9.65 CHAT CHRNB2 GABRG2 HCN1 IMPA2 MFSD2A
6 respiratory system MP:0005388 9.17 CHAT CHRNB2 HCN1 KCNQ2 SCN1A SCN2A

Drugs & Therapeutics for Febrile Seizures

Drugs for Febrile Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Ibuprofen Approved Phase 4 15687-27-1 3672
4
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
5
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
6
BCG vaccine Investigational Phase 4
7 Antioxidants Phase 4
8 Protective Agents Phase 4
9 Vaccines Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Analgesics Phase 4
12 Antipyretics Phase 4
13 Cyclooxygenase Inhibitors Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Antirheumatic Agents Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Immunologic Factors Phase 4
18 Adjuvants, Immunologic Phase 4
19 Hypnotics and Sedatives Phase 4
20 GABA Modulators Phase 4
21 Neurotransmitter Agents Phase 4
22 Anticonvulsants Phase 4
23 Excitatory Amino Acid Antagonists Phase 4
24
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
25
Clonazepam Approved, Illicit 1622-61-3 2802
26
Phenylalanine Approved, Investigational, Nutraceutical 63-91-2 6140
27 Arginine Vasopressin
28 Immunoglobulins
29 Antibodies
30 Heptavalent Pneumococcal Conjugate Vaccine
31 Anesthetics
32 Anesthetics, General
33 Anti-Anxiety Agents
34 Psychotropic Drugs
35 Antiemetics
36 Anesthetics, Intravenous
37 Gastrointestinal Agents

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Comparison Between Melatonin and Diazepam for Prevention of Recurrent Simple Febrile Seizures: Randomized Clinical Trial Completed NCT03631901 Phase 4 oral melatonin;oral diazepam
2 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4 Diclofenac, Paracetamol, Ibuprofen
3 A Prospective, Randomized, Open-label Clinical Trial to Assess Fever Following Simultaneous Versus Sequential Administration of PCV13, DTaP Vaccine and IIV in Young Children Completed NCT03165981 Phase 4
4 Bacille Calmette Guérin Immunisation at Birth and Childhood Morbidity in Danish Children. A Prospective, Randomised, Clinical Trial. Completed NCT01694108 Phase 4
5 Prophylactic Phenobarbital After Resolution of Neonatal Seizures Terminated NCT01089504 Phase 4 phenobarbital;placebo
6 Efficacy and Safety of a Novel Tetravalent Dengue Vaccine in Healthy Children Aged 2 to 14 Years in Asia Completed NCT01373281 Phase 3
7 Carbon Dioxide (Carbogen) for the Treatment of Febrile Seizures Terminated NCT01370044 Phase 2, Phase 3 Carbogen;Placebo
8 Investigation of the Respiratory Physiology of Children With and Without Febrile Seizures During Febrile Illness. Unknown status NCT01906619
9 Viral Respiratory and Gastrointestinal Infections in Children Under 6 Years of Age - the Clinical Relevance of Newly Discovered Viruses Unknown status NCT00987519
10 The Relevance of Performing Lumbar Puncture in Infants Aged 3 to 12 Months With First Episode of Febrile Convulsion Completed NCT01443611
11 Pharmacoepidemiological Methodology to Evaluate the Vaccination Risk in Young Infants Completed NCT01931813
12 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures - Population Genetic Study Completed NCT03481764
13 Nervous System Infections Among Patients With Febrile Seizure : Retrospective Cohort Review of Consecutive Patients Admitted in 7 Pediatric Emergency Departments in Ile-de-France Between 2007 and 2011 Completed NCT01694524
14 Prospective Study on Copeptin in Childhood Epilepsy Completed NCT01884766
15 A Multi-centre, Open-label, Clinical, Phase 4 Trial, Following on From a Head-to-head Comparison Study of Two H1N1 Influenza Vaccines in Children, to Compare Firstly, the Persistence of Antibody Against the A/California/7/2009 (H1N1) Virus and Secondly the Immunogenicity and Reactogenicity of One Dose of a Non-adjuvanted Trivalent Seasonal Influenza Vaccine, in Children Who Had Received a Two-dose Immunisation Regimen of Celvapan or Pandemrix. Completed NCT01239537 Seasonal Flu vaccine
16 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520
17 AN OBSERVATIONAL SAFETY STUDY FOR PREVENAR 13 AMONG CHINESE CHILDREN Active, not recruiting NCT03656939
18 Relationship Between Polymorphisms of TRPV1 and KCC2 Gene in Children With Febrile Seizures Enrolling by invitation NCT04368936
19 The Efficacy of A Single Dose Clonazepam Compared With the Intermittent Diazepam to Prevent Recurrent Febrile Seizures in Queen Sirikit National Institute of Child Health Not yet recruiting NCT04364321 Clonazepam 0.5 MG;Diazepam Tablets
20 Pattern of Pediatric Seizures at Al-Arish Central Hospital - North Sinai Not yet recruiting NCT03374384
21 The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies Terminated NCT00142363

Search NIH Clinical Center for Febrile Seizures

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Phenobarbital
Phenobarbital Sodium

Genetic Tests for Febrile Seizures

Genetic tests related to Febrile Seizures:

# Genetic test Affiliating Genes
1 Febrile Seizures 29

Anatomical Context for Febrile Seizures

MalaCards organs/tissues related to Febrile Seizures:

40
Temporal Lobe, Brain, Testes, Cortex, Eye, Kidney, Thyroid

Publications for Febrile Seizures

Articles related to Febrile Seizures:

(show top 50) (show all 3779)
# Title Authors PMID Year
1
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 61 54
20522430 2010
2
Mutations in GABAA receptor subunits associated with genetic epilepsies. 54 61
20308251 2010
3
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. 54 61
20117752 2010
4
Advances on the genetics of mendelian idiopathic epilepsies. 61 54
19853223 2009
5
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 61 54
19782004 2009
6
Parental SCN1A mutation mosaicism in familial Dravet syndrome. 61 54
19673951 2009
7
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 54 61
19666879 2009
8
[Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus]. 61 54
19951487 2009
9
Clinical spectrum of SCN1A mutations. 54 61
19469841 2009
10
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? 61 54
19203856 2009
11
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? 61 54
19292758 2009
12
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. 61 54
19339291 2009
13
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. 54 61
19289736 2009
14
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. 54 61
19261880 2009
15
Febrile seizures: interleukin 1beta and interleukin-1 receptor antagonist polymorphisms. 61 54
19135625 2009
16
Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. 61 54
18632234 2009
17
[Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus]. 54 61
19065515 2008
18
Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+. 54 61
17927801 2008
19
[Epilepsy in Israel--2008]. 54 61
18357670 2008
20
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. 61 54
18566737 2008
21
Neuropeptide Y gene polymorphism and plasma neuropeptide Y level in febrile seizure patients in Taiwan. 54 61
18055304 2007
22
GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children. 61 54
17884755 2007
23
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 54 61
17561957 2007
24
Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures. 61 54
17641256 2007
25
Crystal structure of human myo-inositol monophosphatase 2, the product of the putative susceptibility gene for bipolar disorder, schizophrenia, and febrile seizures. 54 61
17340635 2007
26
Genetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patients. 54 61
17388992 2007
27
Neuropeptide Y: potential role in recurrent developmental seizures. 61 54
17196709 2007
28
Spatial expression patterns and biochemical properties distinguish a second myo-inositol monophosphatase IMPA2 from IMPA1. 54 61
17068342 2007
29
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 54 61
17020904 2007
30
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. 61 54
17129991 2006
31
Role of genetics in the diagnosis and treatment of epilepsy. 61 54
17181426 2006
32
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 54 61
17054684 2006
33
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. 61 54
17065438 2006
34
Phenotypes and genotypes in epilepsy with febrile seizures plus. 54 61
16884893 2006
35
Increased IL-1beta production from dsRNA-stimulated leukocytes in febrile seizures. 61 54
16876005 2006
36
Na channel gene mutations in epilepsy--the functional consequences. 61 54
16806834 2006
37
A novel GABRG2 mutation associated with febrile seizures. 54 61
16924025 2006
38
Molecular genetics of febrile seizures. 54 61
16887333 2006
39
Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. 54 61
16256272 2006
40
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 61 54
16210358 2005
41
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 54 61
16122630 2005
42
Endogenous neuropeptide Y prevents recurrence of experimental febrile seizures by increasing seizure threshold. 54 61
15800380 2005
43
Seizures of idiopathic generalized epilepsies. 54 61
16302874 2005
44
Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. 54 61
15557493 2004
45
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. 61 54
15263074 2004
46
Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit. 61 54
15101840 2004
47
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 54 61
15087100 2004
48
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. 61 54
15028761 2004
49
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 61 54
14738422 2004
50
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 54 61
14672992 2003

Variations for Febrile Seizures

ClinVar genetic disease variations for Febrile Seizures:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A NM_001165963.4(SCN1A):c.327C>G (p.Tyr109Ter)SNV Pathogenic 437911 rs1553553485 2:166915136-166915136 2:166058626-166058626
2 CHAT NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys)SNV Pathogenic 523529 rs201439531 10:50872926-50872926 10:49664880-49664880
3 SCN1A NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)duplication Pathogenic 599005 rs1559193213 2:166892659-166892660 2:166036149-166036150
4 MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23deldeletion Pathogenic 684729 1:40424346-40424348 1:39958674-39958676
5 46;X;inv(X)(p11.4q24)dninversion Pathogenic 267883
6 GRIN1 NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)SNV Likely pathogenic 598966 rs1564365418 9:140058298-140058298 9:137163846-137163846
7 SCN8A NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)SNV Conflicting interpretations of pathogenicity 523505 rs1555228665 12:52182486-52182486 12:51788702-51788702
8 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met)SNV Conflicting interpretations of pathogenicity 523528 rs769234940 10:50835781-50835781 10:49627735-49627735
9 OCA2 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)SNV Conflicting interpretations of pathogenicity 194918 rs371412500 15:28171332-28171332 15:27926186-27926186
10 46;XY;t(2;10)(p15;p14)dnTranslocation Uncertain significance 268032
11 AMER1 NM_152424.4(AMER1):c.1907_1908GA[2] (p.Glu637fs)short repeat Uncertain significance 523561 rs1555933313 X:63411255-63411256 X:64191375-64191376
12 TNFRSF1A NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)SNV Uncertain significance 97703 rs104895288 12:6442571-6442571 12:6333405-6333405
13 NF1 NM_000267.3(NF1):c.1987G>A (p.Gly663Arg)SNV Uncertain significance 184278 rs140653372 17:29552254-29552254 17:31225236-31225236

Expression for Febrile Seizures

Search GEO for disease gene expression data for Febrile Seizures.

Pathways for Febrile Seizures

Pathways related to Febrile Seizures according to KEGG:

36
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728
2 Neuroactive ligand-receptor interaction hsa04080
3 GABAergic synapse hsa04727

Pathways related to Febrile Seizures according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A
2
Show member pathways
12.76 SCN9A SCN8A SCN2A SCN1B SCN1A
3
Show member pathways
12.73 KCNQ2 HCN1 GABRG2 CHRNB2 CHAT
4
Show member pathways
12.53 SCN9A SCN8A SCN2A SCN1B SCN1A
5
Show member pathways
12.36 SCN9A SCN8A SCN2A SCN1B SCN1A
6 12.27 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2
7
Show member pathways
11.53 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2
8
Show member pathways
11.43 SCN9A SCN8A SCN2A SCN1B SCN1A
9 11.1 GABRG2 GABRD CHRNB2
10 10.66 GABRG2 GABRD
11 10.58 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2

GO Terms for Febrile Seizures

Cellular components related to Febrile Seizures according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.42 STX1B SEZ6 SCN9A SCN8A SCN2A SCN1B
2 integral component of membrane GO:0016021 10.24 STX1B SEZ6 SCN9A SCN8A SCN2A SCN1B
3 plasma membrane GO:0005886 10.2 STX1B SEZ6 SCN9A SCN8A SCN2A SCN1B
4 integral component of plasma membrane GO:0005887 10.06 SCN9A SCN2A SCN1B MFSD2A KCNQ2 HCN1
5 cell projection GO:0042995 10.04 SCN9A SCN8A SCN1B PRRT2 GABRG2 ADGRV1
6 synapse GO:0045202 10.02 PRRT2 KCNQ2 GABRG2 GABRD CHRNB2 CHAT
7 neuron projection GO:0043005 9.93 SCN9A PRRT2 GABRG2 GABRD CHRNB2 CHAT
8 postsynaptic membrane GO:0045211 9.84 PRRT2 GABRG2 GABRD CHRNB2
9 integral component of presynaptic membrane GO:0099056 9.7 SCN2A PRRT2 CHRNB2
10 T-tubule GO:0030315 9.69 SCN2A SCN1B SCN1A
11 intercalated disc GO:0014704 9.67 SCN2A SCN1B SCN1A
12 axon initial segment GO:0043194 9.61 SCN8A SCN1A KCNQ2
13 GABA-A receptor complex GO:1902711 9.56 GABRG2 GABRD
14 voltage-gated sodium channel complex GO:0001518 9.55 SCN9A SCN8A SCN2A SCN1B SCN1A
15 sodium channel complex GO:0034706 9.43 SCN2A SCN1B SCN1A
16 node of Ranvier GO:0033268 9.35 SCN8A SCN2A SCN1B SCN1A KCNQ2
17 axon GO:0030424 9.32 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A

Biological processes related to Febrile Seizures according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.02 SCN9A SCN8A SCN2A SCN1A MFSD2A KCNQ2
2 ion transmembrane transport GO:0034220 9.91 SCN9A SCN8A SCN2A SCN1A GABRG2 GABRD
3 chemical synaptic transmission GO:0007268 9.83 KCNQ2 GABRG2 GABRD CHRNB2
4 regulation of membrane potential GO:0042391 9.83 SCN1A HCN1 GABRG2 GABRD CHRNB2
5 nervous system process GO:0050877 9.76 GABRG2 GABRD CHRNB2 ADGRV1
6 sodium ion transport GO:0006814 9.73 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
7 neuronal action potential GO:0019228 9.71 SCN9A SCN8A SCN2A SCN1A
8 regulation of postsynaptic membrane potential GO:0060078 9.67 GABRG2 GABRD CHRNB2
9 sodium ion transmembrane transport GO:0035725 9.63 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
10 membrane depolarization during action potential GO:0086010 9.62 SCN9A SCN8A SCN2A SCN1A
11 membrane depolarization GO:0051899 9.58 SCN1B CHRNB2
12 action potential GO:0001508 9.58 SCN1A CHRNB2
13 regulation of dendrite development GO:0050773 9.57 SEZ6 MFSD2A
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.56 SCN1B SCN1A
15 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.55 STX1B PRRT2
16 neuromuscular process controlling posture GO:0050884 9.54 SCN1A PRRT2
17 neuronal action potential propagation GO:0019227 9.51 SCN1B SCN1A
18 regulation of ion transmembrane transport GO:0034765 9.5 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2
19 ion transport GO:0006811 9.32 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2

Molecular functions related to Febrile Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.8 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2
2 transmembrane signaling receptor activity GO:0004888 9.78 GABRG2 GABRD CHRNB2 ADGRV1
3 sodium channel activity GO:0005272 9.63 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
4 cation channel activity GO:0005261 9.62 SCN9A SCN8A SCN2A SCN1A
5 neurotransmitter receptor activity GO:0030594 9.61 GABRG2 GABRD CHRNB2
6 extracellular ligand-gated ion channel activity GO:0005230 9.58 GABRG2 GABRD CHRNB2
7 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.54 GABRG2 GABRD CHRNB2
8 GABA-A receptor activity GO:0004890 9.46 GABRG2 GABRD
9 voltage-gated sodium channel activity GO:0005248 9.43 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
10 ion channel activity GO:0005216 9.28 SCN9A SCN8A SCN2A SCN1A KCNQ2 HCN1

Sources for Febrile Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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