MCID: FBR031
MIFTS: 55

Febrile Seizures

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures

MalaCards integrated aliases for Febrile Seizures:

Name: Febrile Seizures 54 37 29 6
Febrile Convulsions 73
Seizures Febrile 55

Classifications:



External Ids:

KEGG 37 H00783
UMLS 73 C0009952

Summaries for Febrile Seizures

NINDS : 54 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 Ibuprofen and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and cortex, and related phenotypes are Increased vaccinia virus (VACV) infection and behavior/neurological

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, 6
Febrile Seizures, Familial, 5 Febrile Seizures, Familial, 7
Febrile Seizures, Familial, 9 Febrile Seizures, Familial, 10
Febrile Seizures, Familial, 11

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 1 34.3 SCN1A SCN1B
2 genetic epilepsy with febrile seizures plus 34.2 SCN1A SCN9A
3 generalized epilepsy with febrile seizures plus 33.2 ADGRV1 GABRD GABRG2 KCNQ2 SCN1A SCN1B
4 epilepsy, idiopathic generalized 10 33.1 CHRNA4 CPA6 GABRD GABRG2 SCN1A
5 epileptic encephalopathy, early infantile, 6 32.1 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN9A
6 seizure disorder 31.9 KCNQ2 SCN1A
7 epilepsy 31.0 CHRNA4 CHRNB2 CPA6 GABRD GABRG2 KCNQ2
8 myoclonic epilepsy of infancy 30.0 GABRG2 SCN1A
9 childhood absence epilepsy 30.0 CHRNA4 GABRG2 SCN1B
10 early onset absence epilepsy 29.7 CHRNB2 SCN1B
11 focal epilepsy 29.0 CHRNA4 CHRNB2 CPA6 GABRD GABRG2 IL1R1
12 epilepsy, idiopathic generalized 28.8 CHRNA4 CHRNB2 GABRD GABRG2 KCNQ2 SCN1A
13 generalized epilepsy with febrile seizures plus, type 2 12.8
14 febrile seizures, familial, 11 12.7
15 generalized epilepsy with febrile seizures plus, type 3 12.7
16 generalized epilepsy with febrile seizures plus, type 7 12.7
17 febrile seizures, familial, 4 12.7
18 generalized epilepsy with febrile seizures plus, type 9 12.5
19 generalized epilepsy with febrile seizures plus, type 8 12.5
20 febrile seizures, familial, 1 12.5
21 mental retardation, keratoconus, febrile seizures, and sinoatrial block 12.3
22 generalized epilepsy with febrile seizures plus, type 4 12.3
23 generalized epilepsy with febrile seizures plus, type 6 12.3
24 febrile seizures, familial, 2 12.2
25 febrile seizures, familial, 6 12.2
26 febrile seizures, familial, 5 12.2
27 febrile seizures, familial, 7 12.2
28 febrile seizures, familial, 9 12.2
29 febrile seizures, familial, 10 12.2
30 epilepsy, familial temporal lobe, 2 11.3
31 scn1a-related seizure disorders 11.1
32 insensitivity to pain, congenital, with anhidrosis 11.0
33 myoclonic epilepsy, familial infantile 11.0
34 epilepsy, childhood absence 2 11.0
35 epilepsy, idiopathic generalized 8 11.0
36 skraban-deardorff syndrome 11.0
37 epileptic encephalopathy, early infantile, 64 11.0
38 exanthema subitum 11.0
39 benign familial neonatal epilepsy 11.0
40 chd2 myoclonic encephalopathy 11.0
41 temporal lobe epilepsy 10.5
42 influenza 10.4
43 iron metabolism disease 10.4
44 meningitis 10.3
45 encephalopathy 10.3
46 measles 10.3
47 deficiency anemia 10.2
48 mumps 10.2
49 iron deficiency anemia 10.2
50 rubella 10.2

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

GenomeRNAi Phenotypes related to Febrile Seizures according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.5 ADGRV1 CHAT CHRNA4 CHRNB2 CPA6 GABRD

MGI Mouse Phenotypes related to Febrile Seizures:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 ADGRV1 CHAT CHRNA4 CHRNB2 GABRD GABRG2
2 mortality/aging MP:0010768 9.93 ADGRV1 CHAT CHRNA4 CHRNB2 GABRD GABRG2
3 growth/size/body region MP:0005378 9.91 CHAT CHRNB2 GABRG2 IL1R1 KCNQ2 SCN1A
4 nervous system MP:0003631 9.8 ADGRV1 CHAT CHRNA4 CHRNB2 GABRD GABRG2
5 normal MP:0002873 9.28 CHAT CHRNB2 GABRG2 IL1R1 IMPA2 SCN1A

Drugs & Therapeutics for Febrile Seizures

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 4,Not Applicable 15687-27-1 3672
2
Acetaminophen Approved Phase 4,Not Applicable 103-90-2 1983
3
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
4
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
5
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
6
BCG vaccine Investigational Phase 4
7 Immunologic Factors Phase 4,Phase 3,Phase 2,Not Applicable
8 Vaccines Phase 4,Phase 3,Phase 2,Not Applicable
9 Analgesics, Non-Narcotic Phase 4,Not Applicable
10 Analgesics Phase 4,Not Applicable
11 Peripheral Nervous System Agents Phase 4,Not Applicable
12 Anti-Inflammatory Agents Phase 4,Not Applicable
13 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Not Applicable
14 Antipyretics Phase 4,Not Applicable
15 Cyclooxygenase Inhibitors Phase 4,Not Applicable
16 Antirheumatic Agents Phase 4,Not Applicable
17 Heptavalent Pneumococcal Conjugate Vaccine Phase 4,Phase 3,Phase 2
18 Adjuvants, Immunologic Phase 4
19 Autonomic Agents Phase 4
20 Neurotransmitter Agents Phase 4
21 Adjuvants, Anesthesia Phase 4
22 Antioxidants Phase 4
23 Anesthetics, Intravenous Phase 4
24 Psychotropic Drugs Phase 4
25 Antiemetics Phase 4
26 GABA Agents Phase 4
27 Anesthetics, General Phase 4
28 Tranquilizing Agents Phase 4
29 Central Nervous System Depressants Phase 4
30 Neuromuscular Agents Phase 4
31 Anticonvulsants Phase 4
32 Anti-Anxiety Agents Phase 4
33 Gastrointestinal Agents Phase 4
34 Anesthetics Phase 4
35 Hypnotics and Sedatives Phase 4
36 Protective Agents Phase 4
37 GABA Modulators Phase 4
38
Altretamine Approved Phase 3 645-05-6 2123
39
Oseltamivir Approved Phase 3 204255-11-8, 196618-13-0 65028
40 PENTA Phase 3,Phase 2
41 Anti-Infective Agents Phase 3
42 Antiviral Agents Phase 3
43 Immunoglobulins Phase 2
44 Antibodies Phase 2
45 Anticoagulants Phase 2
46 Fibrinolytic Agents Phase 2
47 Arginine Vasopressin

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 The Safety and Immunogenicity Study of Rotavirus Vaccine Simultaneously Vaccinated With MR or MMR Vaccine Unknown status NCT02153866 Phase 4
2 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4 Diclofenac, Paracetamol, Ibuprofen
3 Fever After Simultaneous Versus Sequential Vaccination in Young Children Completed NCT03165981 Phase 4
4 Clinical Immunization Safety Assessment (CISA) Project: Pilot Study to Assess the Effect of Prophylactic Antipyretics on Immune Responses and Fever After IIV Completed NCT01946594 Phase 4
5 Bacille Calmette Guérin Immunisation at Birth and Childhood Morbidity in Danish Children. Completed NCT01694108 Phase 4
6 Post-licensure Safety Study of IMOJEV® in Thailand Completed NCT01981967 Phase 4
7 Lot-to-lot Consistency Trial of Japanese Encephalitis Live Attenuated SA 14-14-2 Vaccine Completed NCT01567865 Phase 4
8 Comparison Between Melatonin and Diazepam for Prevention of Recurrent Simple Febrile Seizures Recruiting NCT03631901 Phase 4 oral melatonin;oral diazepam
9 Safety, Tolerability, and Immunogenicity of V419 Given Concomitantly With Prevnar 13™ and RotaTeq™ (V419-005) Completed NCT01337167 Phase 3
10 A Safety and Immune Study of 2 Types of GlaxoSmithKline's Varicella Vaccines Given as a 2-doses Course to Healthy Children 12-23 Months of Age. Completed NCT02570126 Phase 3
11 Safety and Immunogenicity of GSK Biologicals' HPV-16/18 L1 VLP AS04 Vaccine (GSK-580299) in Healthy Female Children 4-6 Years Old Completed NCT01627561 Phase 3
12 Immunogenicity & Safety of Hepatitis A Vaccine Co-admin With a Measles/Mumps/Rubella & a Varicella Vaccine in Children Completed NCT00197015 Phase 3
13 Immunogenicity and Safety Study of GlaxoSmithKline (GSK) Biologicals' Combined Measles-mumps-rubella (MMR) Vaccine in Children in Their Second Year of Life Completed NCT01681992 Phase 3
14 Study of a Novel Tetravalent Dengue Vaccine in Healthy Children Aged 2 to 14 Years in Asia Completed NCT01373281 Phase 3
15 Immunogenicity and Safety Study of GlaxoSmithKline (GSK) Biologicals' Combined Measles-mumps-rubella (MMR) Vaccine in Subjects Four to Six Years of Age Completed NCT01621802 Phase 3
16 Safety and Immunogenicity Study of GlaxoSmithKline (GSK) Biologicals' Measles, Mumps and Rubella (MMR) Vaccine (209762) Compared to Merck & Co., Inc.'s MMR Vaccine in Healthy Children 12 to 15 Months of Age Completed NCT02184572 Phase 3
17 Consistency Study of GlaxoSmithKline (GSK) Biologicals' MMR Vaccine (209762) (Priorix) Comparing Immunogenicity and Safety to Merck & Co., Inc.'s MMR Vaccine (M-M-R II), in Children 12 to 15 Months of Age Completed NCT01702428 Phase 3
18 Safety and Immunogenicity Study of Hib-MenCY-TT Vaccine Compared to Licensed Hib Conjugate Vaccine Completed NCT00289783 Phase 3
19 Immunogenicity and Safety Study of PriorixTetra™ When Co-administered With Conjugated MenC Vaccine in Healthy Children Completed NCT01506193 Phase 3
20 Study to Assess the Safety, Pharmacokinetics, and Efficacy of Baloxavir Marboxil in Healthy Pediatric Participants From Birth to < 1 Year With Influenza-Like Symptoms Recruiting NCT03653364 Phase 3 Baloxavir Marboxil
21 Study to Assess the Safety, Pharmacokinetics, and Efficacy of Baloxavir Marboxil in Healthy Pediatric Participants With Influenza-Like Symptoms Recruiting NCT03629184 Phase 3 Baloxavir Marboxil;Oseltamivir
22 Carbon Dioxide (Carbogen) for the Treatment of Febrile Seizures Terminated NCT01370044 Phase 2, Phase 3 Carbogen;Placebo
23 Immunogenicity of GSKs' MMR Vaccine (209762) vs. M-M-R® II, When Given With Routine Vaccines at 12-15 Months of Age Completed NCT00861744 Phase 2
24 Hib-MenCY-TT Vaccine Study Compared to Licensed Hib and Meningococcal Serogroup C Conjugate Vaccines Completed NCT00134719 Phase 2
25 Respiratory Physiology in Children With Febrile Seizures. Unknown status NCT01906619
26 Viral Respiratory and Gastrointestinal Infections in Children Under 6 Years of Age Unknown status NCT00987519
27 Nervous System Infections Among Patients With Febrile Seizure Completed NCT01694524
28 The Relevance of Performing Lumbar Puncture in Infants Aged 3 to 12 Months With First Episode of Febrile Convulsion Completed NCT01443611
29 METHORIVAC - Vaccinal Pharmacoepidemiologic Completed NCT01931813
30 Copeptin in Childhood Epilepsy Completed NCT01884766
31 The Effect of Prophylactic Antipyretics on Immune Responses and Fever After 2014-2015 and 2015-2016 Inactivated Influenza Vaccine Completed NCT02212990 Not Applicable
32 Swine Flu (Influenza A H1N1) Follow on Vaccine Study Completed NCT01239537 Seasonal Flu vaccine
33 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Recruiting NCT03481764
34 A Surveillance Study of Diseases Specified as Adverse Events of Special Interest, of Other Adverse Events Leading to Hospitalisation or Death, and of Meningitis in Children in Africa Prior to Implementation of the RTS,S/AS01E Candidate Recruiting NCT02374450 Not Applicable
35 Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies Terminated NCT00142363
36 Safety Study of Measles-Mumps-Rubella-Varicella (MMRV) Vaccine, Priorix-Tetra™ in Children Living in the Philippines Withdrawn NCT01738841

Search NIH Clinical Center for Febrile Seizures

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Temporal Lobe, Brain, Cortex, Testes, Kidney, Neutrophil, Spinal Cord

Publications for Febrile Seizures

Articles related to Febrile Seizures:

(show top 50) (show all 1403)
# Title Authors Year
1
Serum IL-6 Levels in Children with Febrile Seizures. ( 29428914 )
2018
2
Prevalence, Incidence, and Recurrence of Febrile Seizures in Korean Children Based on National Registry Data. ( 29629539 )
2018
3
Stress and Corticosteroids Aggravate Morphological Changes in the Dentate Gyrus after Early-Life Experimental Febrile Seizures in Mice. ( 29434572 )
2018
4
Interleukin-4 and tumor necrosis factor-alpha levels in children with febrile seizures. ( 29729582 )
2018
5
GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population. ( 29379546 )
2018
6
Parent's Experiences of Their Children Suffering Febrile Seizures. ( 29167084 )
2018
7
Polymorphisms in the interleukin-1I^ (IL-1B) and interleukin-1I+ (IL-1A) genes on risk of febrile seizures: a meta-analysis. ( 29808330 )
2018
8
Differential roles of Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures. ( 29335582 )
2018
9
[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus]. ( 29429462 )
2018
10
Temporal analysis of hippocampal CA3 gene coexpression networks in a rat model of febrile seizures. ( 29196444 )
2018
11
DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures. ( 29223763 )
2018
12
Metabolic profile of oxidative stress and trace elements in febrile seizures among children. ( 29946956 )
2018
13
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. ( 29635106 )
2018
14
Spinal Fluid Cytokine Levels and Single-Photon Emission Computed Tomography Findings in Complex Febrile Seizures. ( 29618277 )
2018
15
Complex Febrile Seizures, Lumbar Puncture, and Central Nervous System Infections: AA National Perspective. ( 29701893 )
2018
16
Differential diagnosis of nonepileptic twilight state with convulsive manifestations after febrile seizures. ( 29866486 )
2018
17
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus? ( 29454195 )
2018
18
Yonder: Sleep quality, febrile seizures, interpreters, and doulas. ( 29371306 )
2018
19
Trend of subsequent epilepsy in children with recurrent febrile seizures: A retrospective matched cohort study. ( 30172997 )
2018
20
Genetic literacy series: genetic epilepsy with febrile seizures plus. ( 30078767 )
2018
21
Predictive Value of Epileptiform Discharges for Subsequent Epilepsy After Febrile Seizures. ( 30022697 )
2018
22
Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study). ( 30235060 )
2018
23
Fangjing decoction relieves febrile seizures-induced hippocampal neuron apoptosis in rats via regulating the Akt/mTOR pathway. ( 30287501 )
2018
24
Management of Pediatric Febrile Seizures. ( 30321985 )
2018
25
Assessment of physicians knowledge and attitudes in the management of febrile seizures. ( 30351289 )
2018
26
Myelin water fraction changes in febrile seizures. ( 30384118 )
2018
27
Children infected by human herpesvirus 6B with febrile seizures are more likely to develop febrile status epilepticus: A case-control study in a referral hospital in Zambia. ( 30011348 )
2018
28
The Association between Failure to Thrive or Anemia and Febrile Seizures in Children between 6 Months to 6 Years Old Age. ( 30026772 )
2018
29
Febrile seizures: an overview. ( 30038660 )
2018
30
The effects of antihistamines on the semiology of febrile seizures. ( 30064732 )
2018
31
Anthropogenetic Variability in the Group of Individuals with Febrile Seizures: Population-Genetic Study. ( 30069480 )
2018
32
Sociodemographic risk factors for febrile seizures: A school-based study from Izmir, Turkey. ( 30081300 )
2018
33
Inhibition of DPP4 enhances inhibitory synaptic transmission through activating the GLP-1/GLP-1R signaling pathway in a rat model of febrile seizures. ( 30086287 )
2018
34
Vagal TRPV1 activation exacerbates thermal hyperpnea and increases susceptibility to experimental febrile seizures in immature rats. ( 30121230 )
2018
35
Temporal relationship between occurrences of hand, foot and mouth disease, respiratory virus detection and febrile seizures in children in tropical Singapore: a time-series analysis. ( 30208978 )
2018
36
Impact of history of febrile convulsions on the risk difference of febrile convulsions with the tetravalent measles-mumps-rubella-varicella vaccine: Post-hoc exploratory analysis of results from a matched-cohort study. ( 30131195 )
2018
37
Optimal Doses of H1 Antihistamines Do Not Increase Susceptibility to Febrile Convulsions in Children. ( 30174243 )
2018
38
Recognition and management of febrile convulsions in children. ( 30418862 )
2018
39
Correction to: Analysis of plasma multiplex cytokines and increased level of IL-10 and IL-1Ra cytokines in febrile seizures. ( 29149888 )
2017
40
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. ( 28053010 )
2017
41
Differences in Mean Platelet Volume and Platelet Count between Children with Simple and Complex Febrile Seizures. ( 28698727 )
2017
42
Frequency of acute bacterial meningitis in children with first episode of febrile seizures. ( 28770886 )
2017
43
Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus. ( 28704742 )
2017
44
Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS(+)) accompanying seizures with impaired consciousness. ( 28070485 )
2017
45
The assessment of risk factors for febrile seizures in children. ( 28803641 )
2017
46
Febrile Seizures and Epilepsy: Association With Autism and Other Neurodevelopmental Disorders in the Child and Adolescent Twin Study in Sweden. ( 28754226 )
2017
47
Thiol/disulfide homeostasis as a novel indicator of oxidative stress in children with simple febrile seizures. ( 28808794 )
2017
48
The assessment of laboratory parameters in children with fever and febrile seizures. ( 28729928 )
2017
49
Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures. ( 27871023 )
2017
50
Analysis of plasma multiplex cytokines and increased level of IL-10 and IL-1Ra cytokines in febrile seizures. ( 29017522 )
2017

Variations for Febrile Seizures

ClinVar genetic disease variations for Febrile Seizures:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFRSF1A NM_001065.3(TNFRSF1A): c.434A> G (p.Asn145Ser) single nucleotide variant Uncertain significance rs104895288 GRCh37 Chromosome 12, 6442571: 6442571
2 TNFRSF1A NM_001065.3(TNFRSF1A): c.434A> G (p.Asn145Ser) single nucleotide variant Uncertain significance rs104895288 GRCh38 Chromosome 12, 6333405: 6333405
3 NF1 NM_001042492.2(NF1): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs140653372 GRCh37 Chromosome 17, 29552254: 29552254
4 NF1 NM_001042492.2(NF1): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs140653372 GRCh38 Chromosome 17, 31225236: 31225236
5 SCN1A NM_001202435.2(SCN1A): c.327C> G (p.Tyr109Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 166915136: 166915136
6 SCN1A NM_001202435.2(SCN1A): c.327C> G (p.Tyr109Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 166058626: 166058626
7 CHAT NM_020549.4(CHAT): c.1061C> T (p.Thr354Met) single nucleotide variant Conflicting interpretations of pathogenicity rs769234940 GRCh37 Chromosome 10, 50835781: 50835781
8 CHAT NM_020549.4(CHAT): c.1061C> T (p.Thr354Met) single nucleotide variant Conflicting interpretations of pathogenicity rs769234940 GRCh38 Chromosome 10, 49627735: 49627735
9 CHAT NM_020549.4(CHAT): c.2081C> G (p.Ser694Cys) single nucleotide variant Pathogenic rs201439531 GRCh37 Chromosome 10, 50872926: 50872926
10 CHAT NM_020549.4(CHAT): c.2081C> G (p.Ser694Cys) single nucleotide variant Pathogenic rs201439531 GRCh38 Chromosome 10, 49664880: 49664880
11 SCN8A NM_014191.3(SCN8A): c.4235T> C (p.Phe1412Ser) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 12, 52182486: 52182486
12 SCN8A NM_014191.3(SCN8A): c.4235T> C (p.Phe1412Ser) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 12, 51788702: 51788702
13 AMER1 NM_152424.3(AMER1): c.1911_1912delGA (p.Glu637Aspfs) deletion Uncertain significance GRCh38 Chromosome X, 64191375: 64191376
14 AMER1 NM_152424.3(AMER1): c.1911_1912delGA (p.Glu637Aspfs) deletion Uncertain significance GRCh37 Chromosome X, 63411255: 63411256

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:

37
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728
2 Neuroactive ligand-receptor interaction hsa04080
3 GABAergic synapse hsa04727

GO Terms for Febrile Seizures

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ADGRV1 CHRNA4 CHRNB2 GABRD GABRG2 IL1R1
2 integral component of plasma membrane GO:0005887 9.91 CHRNA4 CHRNB2 GABRD GABRG2 IL1R1 KCNQ2
3 synapse GO:0045202 9.85 ADGRV1 CHRNA4 CHRNB2 GABRD GABRG2
4 axon GO:0030424 9.81 GABRG2 SCN1A SCN9A STX1B
5 postsynaptic membrane GO:0045211 9.73 CHRNA4 CHRNB2 GABRD GABRG2
6 neuron projection GO:0043005 9.72 CHAT CHRNA4 CHRNB2 GABRD GABRG2
7 axon initial segment GO:0043194 9.54 KCNQ2 SCN1A
8 GABA-A receptor complex GO:1902711 9.52 GABRD GABRG2
9 acetylcholine-gated channel complex GO:0005892 9.49 CHRNA4 CHRNB2
10 dopaminergic synapse GO:0098691 9.48 CHRNA4 CHRNB2
11 sodium channel complex GO:0034706 9.4 SCN1A SCN1B
12 node of Ranvier GO:0033268 9.13 KCNQ2 SCN1A SCN1B
13 voltage-gated sodium channel complex GO:0001518 8.8 SCN1A SCN1B SCN9A
14 membrane GO:0016020 10.33 ADGRV1 CHRNA4 CHRNB2 GABRD GABRG2 IL1R1
15 integral component of membrane GO:0016021 10.03 ADGRV1 CHRNA4 CHRNB2 GABRD GABRG2 IL1R1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.77 SCN1A SCN1B SCN9A
2 regulation of ion transmembrane transport GO:0034765 9.76 KCNQ2 SCN1A SCN1B SCN9A
3 ion transport GO:0006811 9.76 CHRNA4 CHRNB2 GABRD GABRG2 KCNQ2 SCN1A
4 chemical synaptic transmission GO:0007268 9.73 CHRNA4 CHRNB2 GABRD GABRG2 KCNQ2 SCN1B
5 regulation of membrane potential GO:0042391 9.72 CHRNA4 CHRNB2 GABRD GABRG2 SCN1A
6 sodium ion transmembrane transport GO:0035725 9.7 SCN1A SCN1B SCN9A
7 excitatory postsynaptic potential GO:0060079 9.69 CHRNA4 CHRNB2 SEZ6
8 regulation of postsynaptic membrane potential GO:0060078 9.67 CHRNA4 CHRNB2 GABRD GABRG2
9 sensory perception of pain GO:0019233 9.65 CHRNA4 CHRNB2 SCN9A
10 regulation of dopamine secretion GO:0014059 9.62 CHRNA4 CHRNB2
11 B cell activation GO:0042113 9.61 CHRNA4 CHRNB2
12 neuronal action potential GO:0019228 9.61 SCN1A SCN9A
13 neuromuscular synaptic transmission GO:0007274 9.61 CHAT CHRNA4 CHRNB2
14 synaptic transmission, cholinergic GO:0007271 9.6 CHRNA4 CHRNB2
15 action potential GO:0001508 9.58 CHRNA4 CHRNB2
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 SCN1A SCN1B
17 membrane depolarization GO:0051899 9.58 CHRNA4 CHRNB2 SCN1B
18 membrane depolarization during action potential GO:0086010 9.57 SCN1A SCN9A
19 acetylcholine receptor signaling pathway GO:0095500 9.55 CHRNA4 CHRNB2
20 neuronal action potential propagation GO:0019227 9.54 SCN1A SCN1B
21 behavioral response to nicotine GO:0035095 9.49 CHRNA4 CHRNB2
22 nervous system process GO:0050877 9.35 ADGRV1 CHRNA4 CHRNB2 GABRD GABRG2
23 ion transmembrane transport GO:0034220 9.17 CHRNA4 CHRNB2 GABRD GABRG2 KCNQ2 SCN1A
24 signal transduction GO:0007165 10.1 ADGRV1 CHRNA4 CHRNB2 GABRD GABRG2 IL1R1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.56 KCNQ2 SCN1A SCN1B SCN9A
2 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.54 CHRNB2 GABRD GABRG2
3 sodium channel activity GO:0005272 9.5 SCN1A SCN1B SCN9A
4 ligand-gated ion channel activity GO:0015276 9.49 CHRNA4 CHRNB2
5 GABA-A receptor activity GO:0004890 9.48 GABRD GABRG2
6 acetylcholine binding GO:0042166 9.46 CHRNA4 CHRNB2
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.43 CHRNA4 CHRNB2
8 acetylcholine receptor activity GO:0015464 9.4 CHRNA4 CHRNB2
9 voltage-gated sodium channel activity GO:0005248 9.33 SCN1A SCN1B SCN9A
10 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNA4 CHRNB2 GABRD GABRG2
11 ion channel activity GO:0005216 9.1 CHRNA4 CHRNB2 GABRD GABRG2 SCN1A SCN9A

Sources for Febrile Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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