FEB11
MCID: FBR072
MIFTS: 41

Febrile Seizures, Familial, 11 (FEB11)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 11

MalaCards integrated aliases for Febrile Seizures, Familial, 11:

Name: Febrile Seizures, Familial, 11 57 72 29 13 6 39
Feb11 57 12 72
Familial Febrile Convulsions 11 12 72
Familial Febrile Seizures 11 12 15
Familial Mesial Temporal Lobe Epilepsy with Febrile Seizures 58
Convulsions, Familial Febrile, 11 57
Seizures, Febrile 44

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
seizures remit in later childhood
one consanguineous moroccan family has been reported (as of january 2012)


HPO:

31
febrile seizures, familial, 11:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111308
OMIM® 57 614418
OMIM Phenotypic Series 57 PS121210
MeSH 44 D003294
Orphanet 58 ORPHA165805
MedGen 41 C3280734

Summaries for Febrile Seizures, Familial, 11

UniProtKB/Swiss-Prot : 72 Febrile seizures, familial, 11: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. 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 following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.

MalaCards based summary : Febrile Seizures, Familial, 11, also known as feb11, is related to febrile seizures and seizure disorder. An important gene associated with Febrile Seizures, Familial, 11 is CPA6 (Carboxypeptidase A6), and among its related pathways/superpathways are Nicotine addiction and Synaptic Neurotransmission Pathways: GABAergic Inhibition. The drugs Acetaminophen and Diclofenac have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, and related phenotypes are focal impaired awareness seizure and hippocampal atrophy

Disease Ontology : 12 A familial febrile seizures that has material basis in homozygous mutation in CPA6 on chromosome 8p13.2.

OMIM® : 57 Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by Salzmann et al., 2012). For a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210). (614418) (Updated 05-Apr-2021)

Related Diseases for Febrile Seizures, Familial, 11

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, Familial, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 febrile seizures 30.5 SCN1A GABRG2 GABRD CPA6 ADGRV1
2 seizure disorder 29.6 SCN1A GABRG2 CPA6 ARFGEF1-DT
3 myoclonic epilepsy, familial infantile 10.9
4 epilepsy, idiopathic generalized 8 10.9
5 generalized epilepsy with febrile seizures plus, type 8 10.9
6 verbal auditory agnosia 10.2 GABRG2 CPA6
7 generalized epilepsy with febrile seizures plus, type 4 10.1 TBC1D22A GABRD
8 myoclonic epilepsy of infancy 10.0 SCN1A GABRG2
9 reflex epilepsy 10.0 SCN1A GABRG2
10 febrile seizures, familial, 2 10.0 SCN1A GABRG2
11 early onset absence epilepsy 10.0 SCN1A GABRG2
12 febrile seizures, familial, 7 10.0 TXNDC15 DDX50
13 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1A GABRG2
14 febrile seizures, familial, 10 10.0 TXNDC15 DDX50
15 landau-kleffner syndrome 9.9 SCN1A GABRG2
16 juvenile absence epilepsy 9.9 SCN1A GABRG2
17 photosensitive epilepsy 9.9 SCN1A GABRG2
18 benign familial neonatal epilepsy 9.9 SCN1A GABRG2
19 sturge-weber syndrome 9.8 SCN1A GABRG2
20 epilepsy with generalized tonic-clonic seizures 9.8 SCN1A GABRG2 GABRD
21 adolescence-adult electroclinical syndrome 9.8 SCN1A GABRG2 GABRD
22 childhood electroclinical syndrome 9.8 SCN1A GABRG2 GABRD
23 neonatal period electroclinical syndrome 9.8 SCN1A GABRG2 GABRD
24 febrile seizures, familial, 6 9.8 TBC1D22A SCN1A GABRG2
25 lennox-gastaut syndrome 9.8 SCN1A GABRG2 GABRD
26 early myoclonic encephalopathy 9.8 SCN1A GABRG2 GABRD
27 autosomal dominant nocturnal frontal lobe epilepsy 9.8 SCN1A GABRG2 GABRD
28 dravet syndrome 9.8 SCN1A GABRG2 GABRD
29 epilepsy, idiopathic generalized 9.8 SCN1A GABRG2 GABRD
30 childhood absence epilepsy 9.7 SCN1A GABRG2 GABRD
31 benign familial infantile epilepsy 9.7 SCN1A GABRG2
32 focal epilepsy 9.7 SCN1A GABRG2 GABRD CPA6
33 epilepsy, myoclonic juvenile 9.7 SCN1A GABRG2 GABRD CPA6
34 west syndrome 9.7 SCN1A GABRG2 GABRD
35 generalized epilepsy with febrile seizures plus, type 2 9.6 TBC1D22A SCN1A GABRG2 GABRD
36 unverricht-lundborg syndrome 9.6 SCN1A GABRG2 ADGRV1
37 early infantile epileptic encephalopathy 9.6 SCN1A GABRG2 GABRD
38 febrile seizures, familial, 5 9.5 TXNDC15 TBC1D22A SCN1A GABRG2
39 benign epilepsy with centrotemporal spikes 9.5 SCN1A GABRG2 GABRD CPA6 ARFGEF1-DT
40 generalized epilepsy with febrile seizures plus 9.4 SCN1A GABRG2 GABRD ADGRV1
41 familial febrile seizures 9.4 SCN1A GABRG2 GABRD ADGRV1
42 febrile seizures, familial, 1 9.4 TBC1D22A SCN1A GABRG2 ADGRV1
43 febrile seizures, familial, 4 9.2 TBC1D22A SCN1A GABRG2 GABRD ADGRV1
44 generalized epilepsy with febrile seizures plus, type 7 9.2 TBC1D22A SCN1A GABRG2 GABRD ADGRV1
45 epilepsy 9.1 SCN1A GABRG2 GABRD CPA6 ARFGEF1-DT ADGRV1
46 epilepsy, familial temporal lobe, 5 8.8 TBC1D22A SCN1A GABRG2 GABRD CPA6 ARFGEF1-DT
47 febrile seizures, familial, 8 8.6 TXNDC15 TBC1D22A SCN1A GABRG2 GABRD DDX50

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 11:



Diseases related to Febrile Seizures, Familial, 11

Symptoms & Phenotypes for Febrile Seizures, Familial, 11

Human phenotypes related to Febrile Seizures, Familial, 11:

31
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 31 very rare (1%) HP:0002384
2 hippocampal atrophy 31 very rare (1%) HP:0410170
3 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
4 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, generalized, associated with fever
partial seizures, simple and complex
temporal lobe seizures (in 1 patient)
hippocampal atrophy (1 patient)

Clinical features from OMIM®:

614418 (Updated 05-Apr-2021)

Drugs & Therapeutics for Febrile Seizures, Familial, 11

Drugs for Febrile Seizures, Familial, 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 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
2 Comparison Between Melatonin and Diazepam for Prevention of Recurrent Simple Febrile Seizures: Randomized Clinical Trial Completed NCT03631901 Phase 4 oral melatonin;oral diazepam
3 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4 Diclofenac, Paracetamol, Ibuprofen
4 Carbon Dioxide (Carbogen) for the Treatment of Febrile Seizures Terminated NCT01370044 Phase 2, Phase 3 Carbogen;Placebo
5 Investigation of the Respiratory Physiology of Children With and Without Febrile Seizures During Febrile Illness. Unknown status NCT01906619
6 Viral Respiratory and Gastrointestinal Infections in Children Under 6 Years of Age - the Clinical Relevance of Newly Discovered Viruses Unknown status NCT00987519
7 The Relevance of Performing Lumbar Puncture in Infants Aged 3 to 12 Months With First Episode of Febrile Convulsion Completed NCT01443611
8 Prospective Study on Copeptin in Childhood Epilepsy Completed NCT01884766
9 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures - Population Genetic Study Completed NCT03481764
10 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
11 Pharmacoepidemiological Methodology to Evaluate the Vaccination Risk in Young Infants Completed NCT01931813
12 Relationship Between Polymorphisms of TRPV1 and KCC2 Gene in Children With Febrile Seizures Enrolling by invitation NCT04368936
13 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

Search NIH Clinical Center for Febrile Seizures, Familial, 11

Cochrane evidence based reviews: seizures, febrile

Genetic Tests for Febrile Seizures, Familial, 11

Genetic tests related to Febrile Seizures, Familial, 11:

# Genetic test Affiliating Genes
1 Febrile Seizures, Familial, 11 29 CPA6

Anatomical Context for Febrile Seizures, Familial, 11

MalaCards organs/tissues related to Febrile Seizures, Familial, 11:

40
Temporal Lobe

Publications for Febrile Seizures, Familial, 11

Articles related to Febrile Seizures, Familial, 11:

# Title Authors PMID Year
1
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. 57 6
21922598 2012
2
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. 57
8730286 1996
3
Genetic background of febrile seizures. 61
24399675 2014

Variations for Febrile Seizures, Familial, 11

ClinVar genetic disease variations for Febrile Seizures, Familial, 11:

6 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.809C>T (p.Ala270Val) SNV Conflicting interpretations of pathogenicity 30791 rs114402678 GRCh37: 8:68396032-68396032
GRCh38: 8:67483797-67483797
2 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.757T>G (p.Trp253Gly) SNV Uncertain significance 472763 rs781369203 GRCh37: 8:68396084-68396084
GRCh38: 8:67483849-67483849
3 CPA6 NM_020361.5(CPA6):c.116+5G>C SNV Uncertain significance 472760 rs1281394588 GRCh37: 8:68658244-68658244
GRCh38: 8:67746009-67746009
4 CPA6 NC_000008.11:g.(?_67624156)_(67624271_?)del Deletion Uncertain significance 830838 GRCh37: 8:68536391-68536506
GRCh38:
5 CPA6 NC_000008.11:g.(?_67422484)_(67746149_?)dup Duplication Uncertain significance 830900 GRCh37: 8:68334719-68658384
GRCh38:
6 CPA6 NC_000008.11:g.(?_67483748)_(67484809_?)del Deletion Uncertain significance 831203 GRCh37: 8:68395983-68397044
GRCh38:
7 CPA6 NC_000008.11:g.(?_67422484)_(67434260_?)dup Duplication Uncertain significance 831263 GRCh37: 8:68334719-68346495
GRCh38:
8 CPA6 NM_020361.5(CPA6):c.105C>A (p.Asn35Lys) SNV Uncertain significance 853158 GRCh37: 8:68658260-68658260
GRCh38: 8:67746025-67746025
9 CPA6 NM_020361.5(CPA6):c.397G>C (p.Gly133Arg) SNV Uncertain significance 855175 GRCh37: 8:68423811-68423811
GRCh38: 8:67511576-67511576
10 CPA6 NM_020361.5(CPA6):c.494T>C (p.Ile165Thr) SNV Uncertain significance 539974 rs1487624789 GRCh37: 8:68421792-68421792
GRCh38: 8:67509557-67509557
11 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.757T>C (p.Trp253Arg) SNV Uncertain significance 539975 rs781369203 GRCh37: 8:68396084-68396084
GRCh38: 8:67483849-67483849
12 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1199G>A (p.Arg400His) SNV Uncertain significance 539976 rs746177954 GRCh37: 8:68334854-68334854
GRCh38: 8:67422619-67422619
13 CPA6 NM_020361.5(CPA6):c.534+4A>G SNV Uncertain significance 539978 rs766728291 GRCh37: 8:68421748-68421748
GRCh38: 8:67509513-67509513
14 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.791G>A (p.Arg264His) SNV Uncertain significance 363607 rs752555064 GRCh37: 8:68396050-68396050
GRCh38: 8:67483815-67483815
15 CPA6 NM_020361.5(CPA6):c.127A>G (p.Ile43Val) SNV Uncertain significance 577800 rs766547893 GRCh37: 8:68536476-68536476
GRCh38: 8:67624241-67624241
16 CPA6 NM_020361.5(CPA6):c.636+5G>A SNV Uncertain significance 579363 rs1166618180 GRCh37: 8:68419017-68419017
GRCh38: 8:67506782-67506782
17 CPA6 NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) SNV Uncertain significance 363611 rs151119622 GRCh37: 8:68423882-68423882
GRCh38: 8:67511647-67511647
18 CPA6 NM_020361.5(CPA6):c.534+4A>G SNV Uncertain significance 539978 rs766728291 GRCh37: 8:68421748-68421748
GRCh38: 8:67509513-67509513
19 CPA6 NM_020361.5(CPA6):c.129_130del (p.Ile43fs) Deletion Uncertain significance 640890 rs1587646001 GRCh37: 8:68536473-68536474
GRCh38: 8:67624238-67624239
20 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1019C>T (p.Thr340Ile) SNV Uncertain significance 640893 rs766388803 GRCh37: 8:68346295-68346295
GRCh38: 8:67434060-67434060
21 CPA6 NM_020361.5(CPA6):c.229T>A (p.Ser77Thr) SNV Uncertain significance 645475 rs780171379 GRCh37: 8:68430246-68430246
GRCh38: 8:67518011-67518011
22 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.905A>G (p.Glu302Gly) SNV Uncertain significance 648185 rs1587419865 GRCh37: 8:68346409-68346409
GRCh38: 8:67434174-67434174
23 CPA6 NM_020361.5(CPA6):c.329A>T (p.Glu110Val) SNV Uncertain significance 649736 rs1480644555 GRCh37: 8:68423879-68423879
GRCh38: 8:67511644-67511644
24 CPA6 NM_020361.5(CPA6):c.163del (p.Ala55fs) Deletion Uncertain significance 650554 rs760392592 GRCh37: 8:68536440-68536440
GRCh38: 8:67624205-67624205
25 CPA6 NM_020361.5(CPA6):c.488_490del (p.Phe163del) Deletion Uncertain significance 653748 rs1587505484 GRCh37: 8:68421796-68421798
GRCh38: 8:67509561-67509563
26 CPA6 NM_020361.5(CPA6):c.517T>G (p.Ser173Ala) SNV Uncertain significance 656801 rs1587505420 GRCh37: 8:68421769-68421769
GRCh38: 8:67509534-67509534
27 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.725G>T (p.Gly242Val) SNV Uncertain significance 657933 rs372728943 GRCh37: 8:68396936-68396936
GRCh38: 8:67484701-67484701
28 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1192G>A (p.Glu398Lys) SNV Uncertain significance 662964 rs775233588 GRCh37: 8:68334861-68334861
GRCh38: 8:67422626-67422626
29 CPA6 NM_020361.5(CPA6):c.20G>A (p.Arg7His) SNV Uncertain significance 664501 rs373565150 GRCh37: 8:68658345-68658345
GRCh38: 8:67746110-67746110
30 CPA6 NM_020361.5(CPA6):c.290T>C (p.Phe97Ser) SNV Uncertain significance 574209 rs372902713 GRCh37: 8:68430185-68430185
GRCh38: 8:67517950-67517950
31 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) SNV Uncertain significance 434821 rs139145929 GRCh37: 8:68346383-68346383
GRCh38: 8:67434148-67434148
32 CPA6 NM_020361.5(CPA6):c.360C>A (p.Ser120Arg) SNV Uncertain significance 841590 GRCh37: 8:68423848-68423848
GRCh38: 8:67511613-67511613
33 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.919G>A (p.Ala307Thr) SNV Uncertain significance 939608 GRCh37: 8:68346395-68346395
GRCh38: 8:67434160-67434160
34 CPA6 NM_020361.5(CPA6):c.289T>C (p.Phe97Leu) SNV Uncertain significance 947982 GRCh37: 8:68430186-68430186
GRCh38: 8:67517951-67517951
35 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1118C>A (p.Thr373Lys) SNV Uncertain significance 950004 GRCh37: 8:68340290-68340290
GRCh38: 8:67428055-67428055
36 CPA6 NM_020361.5(CPA6):c.275G>A (p.Arg92Gln) SNV Uncertain significance 959664 GRCh37: 8:68430200-68430200
GRCh38: 8:67517965-67517965
37 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) SNV Uncertain significance 444757 rs753468111 GRCh37: 8:68346412-68346412
GRCh38: 8:67434177-67434177
38 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) SNV Uncertain significance 444757 rs753468111 GRCh37: 8:68346412-68346412
GRCh38: 8:67434177-67434177
39 CPA6 NM_020361.5(CPA6):c.106C>T (p.Arg36Cys) SNV Uncertain significance 998625 GRCh37: 8:68658259-68658259
GRCh38: 8:67746024-67746024
40 CPA6 NM_020361.5(CPA6):c.317A>T (p.Lys106Met) SNV Uncertain significance 593079 rs1044751209 GRCh37: 8:68430158-68430158
GRCh38: 8:67517923-67517923
41 CPA6 NC_000008.10:g.(?_68395983)_(68397044_?)del Deletion Uncertain significance 1004381 GRCh37: 8:68395983-68397044
GRCh38:
42 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1298T>G (p.Leu433Arg) SNV Uncertain significance 1004527 GRCh37: 8:68334755-68334755
GRCh38: 8:67422520-67422520
43 CPA6 NM_020361.5(CPA6):c.419A>G (p.His140Arg) SNV Uncertain significance 1006092 GRCh37: 8:68423789-68423789
GRCh38: 8:67511554-67511554
44 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.747+4A>G SNV Uncertain significance 1006154 GRCh37: 8:68396910-68396910
GRCh38: 8:67484675-67484675
45 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1027A>G (p.Asn343Asp) SNV Uncertain significance 1007855 GRCh37: 8:68346287-68346287
GRCh38: 8:67434052-67434052
46 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1039G>C (p.Val347Leu) SNV Uncertain significance 1011400 GRCh37: 8:68346275-68346275
GRCh38: 8:67434040-67434040
47 CPA6 NM_020361.5(CPA6):c.535-1G>A SNV Uncertain significance 1011584 GRCh37: 8:68419124-68419124
GRCh38: 8:67506889-67506889
48 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1087G>A (p.Gly363Arg) SNV Uncertain significance 472759 rs368528528 GRCh37: 8:68340321-68340321
GRCh38: 8:67428086-67428086
49 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) SNV Uncertain significance 363606 rs140612122 GRCh37: 8:68396044-68396044
GRCh38: 8:67483809-67483809
50 CPA6 NM_020361.5(CPA6):c.19C>T (p.Arg7Cys) SNV Uncertain significance 665449 rs138360068 GRCh37: 8:68658346-68658346
GRCh38: 8:67746111-67746111

UniProtKB/Swiss-Prot genetic disease variations for Febrile Seizures, Familial, 11:

72
# Symbol AA change Variation ID SNP ID
1 CPA6 p.Ala270Val VAR_066947 rs114402678

Expression for Febrile Seizures, Familial, 11

Search GEO for disease gene expression data for Febrile Seizures, Familial, 11.

Pathways for Febrile Seizures, Familial, 11

Pathways related to Febrile Seizures, Familial, 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.56 GABRG2 GABRD
2 9.85 GABRG2 GABRD

GO Terms for Febrile Seizures, Familial, 11

Cellular components related to Febrile Seizures, Familial, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.43 SCN1A GABRG2 GABRD
2 GABA-ergic synapse GO:0098982 9.16 GABRG2 GABRD
3 chloride channel complex GO:0034707 8.96 GABRG2 GABRD
4 GABA-A receptor complex GO:1902711 8.62 GABRG2 GABRD

Biological processes related to Febrile Seizures, Familial, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.33 SCN1A GABRG2 GABRD
2 chloride transport GO:0006821 9.32 GABRG2 GABRD
3 regulation of postsynaptic membrane potential GO:0060078 9.26 GABRG2 GABRD
4 regulation of membrane potential GO:0042391 9.13 SCN1A GABRG2 GABRD
5 nervous system process GO:0050877 8.8 GABRG2 GABRD ADGRV1

Molecular functions related to Febrile Seizures, Familial, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.43 GABRG2 GABRD ADGRV1
2 neurotransmitter receptor activity GO:0030594 9.4 GABRG2 GABRD
3 chloride channel activity GO:0005254 9.37 GABRG2 GABRD
4 extracellular ligand-gated ion channel activity GO:0005230 9.32 GABRG2 GABRD
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.16 GABRG2 GABRD
6 ion channel activity GO:0005216 9.13 SCN1A GABRG2 GABRD
7 GABA-A receptor activity GO:0004890 8.62 GABRG2 GABRD

Sources for Febrile Seizures, Familial, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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