GEFSP1
MCID: GNR038
MIFTS: 42

Generalized Epilepsy with Febrile Seizures Plus, Type 1 (GEFSP1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 1

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 1:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 1 56 29 6 71
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 56 13 39
Generalized Epilepsy with Febrile Seizures Plus 1 12 73 15
Gefsp1 56 12 73
Gefs+1 56 12 73
Generalised Epilepsy with Febrile Seizures Plus Type 1 12
Generalized Epilepsy with Febrile Seizures Plus Type 1 12
Generalised Epilepsy with Febrile Seizures Plus 1 12
Gefs+, Type 1; Gefs+1 56
Gefs+, Type 1 56
Gefs+ Type 1 73

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
highly variable phenotype
onset of febrile seizures typically between 6 months and 6 years of age
persistence of febrile seizures beyond age 6 years
development of afebrile seizures later in childhood

Inheritance:
autosomal dominant


HPO:

31
generalized epilepsy with febrile seizures plus, type 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111302
OMIM 56 604233
OMIM Phenotypic Series 56 PS604233
MedGen 41 C1858672
UMLS 71 C1858672

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 1

OMIM : 56 Scheffer and Berkovic (1997) and Singh et al. (1999) described a clinical subset of febrile seizures, termed 'generalized epilepsy with febrile seizures plus' (GEFS+). Classic febrile seizures (see, e.g., FEB1, 121210) affect approximately 3% of children under 6 years of age and are by far the most common seizure disorder; classic febrile seizures typically spontaneously remit by age 6 years. GEFS+ occurs in a small proportion of children with febrile seizures who either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Patients with GEFS+ express a highly variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, absence seizures, partial seizures, myoclonic seizures, or atonic seizures, with a variable degree of severity (summary by Wallace et al., 1998). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. (604233)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 1, also known as epilepsy, generalized, with febrile seizures plus, type 1, is related to febrile seizures and visual epilepsy, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 1 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include skeletal muscle and temporal lobe, and related phenotypes are atonic seizure and bilateral tonic-clonic seizure

Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.

UniProtKB/Swiss-Prot : 73 Generalized epilepsy with febrile seizures plus 1: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Generalized Epilepsy with Febrile Seizures Plus, Type 1 Generalized Epilepsy with Febrile Seizures Plus, Type 2
Generalized Epilepsy with Febrile Seizures Plus, Type 4 Generalized Epilepsy with Febrile Seizures Plus, Type 6
Generalized Epilepsy with Febrile Seizures Plus, Type 8 Generalized Epilepsy with Febrile Seizures Plus, Type 7
Generalized Epilepsy with Febrile Seizures Plus, Type 9 Generalized Epilepsy with Febrile Seizures Plus, Type 10

Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 febrile seizures 29.8 SCN1B SCN1A GABRG2
2 visual epilepsy 29.5 SCN1B SCN1A GABRG2
3 generalized epilepsy with febrile seizures plus 26.6 SCN7A SCN2B SCN1B SCN1A PTPRZ1 PTPRB
4 epileptic encephalopathy, early infantile, 13 10.2 SCN1B SCN1A
5 genetic epilepsy with febrile seizures plus 10.2
6 seizure disorder 10.2
7 plagiocephaly 10.2 SCN1A LOC102724058
8 hemimegalencephaly 10.1 SCN1A LOC102724058
9 infancy electroclinical syndrome 10.1 SCN1B SCN1A
10 familial adenomatous polyposis 10.1
11 paramyotonia congenita of von eulenburg 10.0 SCN1B SCN1A
12 erythromelalgia 10.0 SCN7A SCN1A
13 myoclonic epilepsy of infancy 9.9 SCN1A GABRG2
14 paroxysmal extreme pain disorder 9.9 SCN2B SCN1B SCN1A
15 verbal auditory agnosia 9.9 SCN1B GABRG2
16 reflex epilepsy 9.8 SCN1A GABRG2
17 landau-kleffner syndrome 9.8 SCN1A GABRG2
18 febrile seizures, familial, 11 9.8 SCN1A GABRG2
19 right bundle branch block 9.8 SCN2B SCN1B
20 juvenile absence epilepsy 9.7 SCN1A GABRG2
21 familial hemiplegic migraine 9.7 SCN1A LOC102724058
22 febrile seizures, familial, 6 9.7 SCN1B SCN1A GABRG2
23 febrile seizures, familial, 5 9.7 SCN1B SCN1A GABRG2
24 early onset absence epilepsy 9.7 SCN1B SCN1A GABRG2
25 febrile seizures, familial, 2 9.7 SCN1B SCN1A GABRG2
26 generalized epilepsy with febrile seizures plus, type 7 9.7 SCN1B SCN1A GABRG2
27 epilepsy, nocturnal frontal lobe, 1 9.7 SCN1B SCN1A GABRG2
28 sturge-weber syndrome 9.7 SCN1A GABRG2
29 febrile seizures, familial, 8 9.7 SCN1B SCN1A GABRG2
30 febrile seizures, familial, 1 9.7 SCN1B SCN1A GABRG2
31 epilepsy, familial temporal lobe, 5 9.7 SCN1B SCN1A GABRG2
32 febrile seizures, familial, 4 9.7 SCN1B SCN1A GABRG2
33 epilepsy with generalized tonic-clonic seizures 9.7 SCN1B SCN1A GABRG2
34 benign familial neonatal epilepsy 9.7 SCN1B SCN1A GABRG2
35 adolescence-adult electroclinical syndrome 9.7 SCN1B SCN1A GABRG2
36 electroclinical syndrome 9.7 SCN1B SCN1A GABRG2
37 photosensitive epilepsy 9.7 SCN1B SCN1A GABRG2
38 childhood electroclinical syndrome 9.7 SCN1B SCN1A GABRG2
39 benign neonatal seizures 9.6 SCN1B SCN1A GABRG2
40 neonatal period electroclinical syndrome 9.6 SCN1B SCN1A GABRG2
41 benign familial infantile epilepsy 9.6 SCN1B SCN1A GABRG2
42 lennox-gastaut syndrome 9.6 SCN1B SCN1A GABRG2
43 familial febrile seizures 9.6 SCN1B SCN1A GABRG2
44 autosomal dominant nocturnal frontal lobe epilepsy 9.6 SCN1B SCN1A GABRG2
45 early myoclonic encephalopathy 9.6 SCN1B SCN1A GABRG2
46 epilepsy, myoclonic juvenile 9.6 SCN1B SCN1A GABRG2
47 benign epilepsy with centrotemporal spikes 9.6 SCN1B SCN1A GABRG2
48 childhood absence epilepsy 9.6 SCN1B SCN1A GABRG2
49 brugada syndrome 9.5 SCN7A SCN2B SCN1B SCN1A
50 generalized epilepsy with febrile seizures plus, type 2 9.4 SCN1B SCN1A LOC102724058 GABRG2

Graphical network of the top 20 diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:



Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 1

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

31
# Description HPO Frequency HPO Source Accession
1 atonic seizure 31 HP:0010819
2 bilateral tonic-clonic seizure 31 HP:0002069
3 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
4 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
generalized tonic-clonic seizures
febrile seizures
absence seizures
afebrile seizures
myotonic seizures
more

Clinical features from OMIM:

604233

UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:


absence seizures

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

# Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus, Type 1 29 SCN1B

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 1

MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

40
Skeletal Muscle, Temporal Lobe

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

(show all 18)
# Title Authors PMID Year
1
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 6 56
20437590 2010
2
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 6 56
14504340 2003
3
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 56 6
12011299 2002
4
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 56 6
9697698 1998
5
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
6
Genetics of epilepsy syndromes starting in the first year of life. 56
19153375 2009
7
SCN1A Seizure Disorders 6
20301494 2007
8
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 6
17020904 2007
9
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. 6
16205844 2005
10
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. 6
15710580 2005
11
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 6
11866477 2002
12
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 56
9894880 1999
13
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 56
9126059 1997
14
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. 61
31465153 2019
15
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 61
12486163 2002
16
Beta subunits: players in neuronal hyperexcitability? 61
11771642 2002
17
Skeletal muscle sodium channel is affected by an epileptogenic beta1 subunit mutation. 61
11263970 2001
18
Sodium channel beta subunits: anything but auxiliary. 61
11486343 2001

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 81 genes: KMT2B GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)copy number loss Pathogenic 625760 19:35111811-37744992
2 SCN1A NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)SNV Pathogenic 12885 rs121917954 2:166859209-166859209 2:166002699-166002699
3 SCN1A NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)SNV Pathogenic 12886 rs121917955 2:166848817-166848817 2:165992307-165992307
4 SCN1A NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg)SNV Pathogenic 12887 rs121917930 2:166870349-166870349 2:166013839-166013839
5 SCN1A NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)SNV Pathogenic 12891 rs121918626 2:166868689-166868689 2:166012179-166012179
6 SCN1A NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala)SNV Pathogenic 12892 rs121918627 2:166858983-166858983 2:166002473-166002473
7 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His)SNV Pathogenic 60767 rs16969925 19:35524449-35524449 19:35033545-35033545
8 SCN1B NM_001037.5(SCN1B):c.208-2A>CSNV Pathogenic 9253 rs724159982 19:35524401-35524401 19:35033497-35033497
9 SCN1A NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His)SNV Pathogenic 68586 rs121918781 2:166904145-166904145 2:166047635-166047635
10 SCN1A NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)SNV Pathogenic 68592 rs121918784 2:166895947-166895947 2:166039437-166039437
11 SCN1A NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)SNV Pathogenic 68642 rs121918811 2:166848816-166848816 2:165992306-165992306
12 SCN1A NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)SNV Pathogenic 68664 rs121918783 2:166848230-166848230 2:165991720-165991720
13 SCN1A NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)SNV Pathogenic/Likely pathogenic 12883 rs121918623 2:166894608-166894608 2:166038098-166038098
14 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)SNV Pathogenic/Likely pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
15 SCN1A NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)SNV Pathogenic/Likely pathogenic 68502 rs121917957 2:166904177-166904177 2:166047667-166047667
16 SCN1A NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)SNV Likely pathogenic 915838 2:166894365-166894365 2:166037855-166037855
17 SCN1A NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)SNV Likely pathogenic 12884 rs121917953 2:166911187-166911187 2:166054677-166054677
18 SCN1A NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)SNV Conflicting interpretations of pathogenicity 68582 rs121917906 2:166930052-166930052 2:166073542-166073542
19 SCN1B NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)SNV Conflicting interpretations of pathogenicity 190859 rs786205830 19:35524448-35524448 19:35033544-35033544
20 SCN1B NM_001037.5(SCN1B):c.448+193G>ASNV Conflicting interpretations of pathogenicity 190847 rs66876876 19:35524836-35524836 19:35033932-35033932
21 SCN1B NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)SNV Conflicting interpretations of pathogenicity 190869 rs72552027 19:35521752-35521752 19:35030848-35030848
22 SCN1B NM_001037.5(SCN1B):c.5+7C>TSNV Conflicting interpretations of pathogenicity 257219 rs28365106 19:35530617-35530617 19:35039713-35039713
23 SCN1B NM_001037.5(SCN1B):c.*377C>TSNV Conflicting interpretations of pathogenicity 889375 19:35531072-35531072 19:35040168-35040168
24 SCN1A NM_006920.6(SCN1A):c.2010+10G>CSNV Conflicting interpretations of pathogenicity 638433 2:166900202-166900202 2:166043692-166043692
25 SCN1B NM_001037.5(SCN1B):c.449-2A>GSNV Conflicting interpretations of pathogenicity 694617 19:35530019-35530019 19:35039115-35039115
26 SCN1B NM_001037.5(SCN1B):c.-31G>ASNV Conflicting interpretations of pathogenicity 516623 rs776361009 19:35521694-35521694 19:35030790-35030790
27 SCN1B NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)SNV Conflicting interpretations of pathogenicity 889314 19:35524482-35524482 19:35033578-35033578
28 SCN1B NM_001037.5(SCN1B):c.636G>A (p.Thr212=)SNV Conflicting interpretations of pathogenicity 890000 19:35530584-35530584 19:35039680-35039680
29 SCN1B NM_001037.5(SCN1B):c.*50C>TSNV Uncertain significance 891557 19:35530745-35530745 19:35039841-35039841
30 SCN1B NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)SNV Uncertain significance 619998 rs1555720743 19:35524542-35524542 19:35033638-35033638
31 SCN1B NM_001037.5(SCN1B):c.*305C>TSNV Uncertain significance 889374 19:35531000-35531000 19:35040096-35040096
32 SCN1B NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)SNV Uncertain significance 582475 rs1488699749 19:35524592-35524592 19:35033688-35033688
33 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)SNV Uncertain significance 565664 rs1568348711 19:35523549-35523549 19:35032645-35032645
34 SCN1B NM_001037.5(SCN1B):c.40+2T>GSNV Uncertain significance 813749 19:35521766-35521766 19:35030862-35030862
35 SCN1B NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)SNV Uncertain significance 816882 19:35524460-35524460 19:35033556-35033556
36 SCN1B NM_001037.5(SCN1B):c.-123A>TSNV Uncertain significance 889254 19:35521602-35521602 19:35030698-35030698
37 SCN1B NM_001037.5(SCN1B):c.-72G>ASNV Uncertain significance 889934 19:35521653-35521653 19:35030749-35030749
38 SCN1B NM_001037.5(SCN1B):c.*378G>ASNV Uncertain significance 889376 19:35531073-35531073 19:35040169-35040169
39 SCN1B NM_001037.5(SCN1B):c.*464C>GSNV Uncertain significance 890065 19:35531159-35531159 19:35040255-35040255
40 SCN1B NM_001037.5(SCN1B):c.*486C>TSNV Uncertain significance 890066 19:35531181-35531181 19:35040277-35040277
41 SCN1B NM_001037.5(SCN1B):c.-132C>GSNV Uncertain significance 328829 rs886054339 19:35521593-35521593 19:35030689-35030689
42 SCN1B NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)SNV Uncertain significance 190870 rs786205834 19:35521762-35521762 19:35030858-35030858
43 SCN1B NM_001037.5(SCN1B):c.134G>A (p.Arg45His)SNV Uncertain significance 190857 rs180943300 19:35523525-35523525 19:35032621-35032621
44 SCN1B NM_001037.5(SCN1B):c.150C>T (p.Asn50=)SNV Uncertain significance 328834 rs147073518 19:35523541-35523541 19:35032637-35032637
45 SCN1B NM_001037.5(SCN1B):c.-93G>CSNV Uncertain significance 328831 rs886054340 19:35521632-35521632 19:35030728-35030728
46 SCN1B NM_001037.5(SCN1B):c.-88A>CSNV Uncertain significance 328832 rs886054341 19:35521637-35521637 19:35030733-35030733
47 SCN1A NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)SNV Uncertain significance 68660 rs121918813 2:166848402-166848402 2:165991892-165991892
48 SCN1A NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)SNV Uncertain significance 68625 rs121918801 2:166866306-166866306 2:166009796-166009796
49 SCN1B NM_001037.5(SCN1B):c.*553C>TSNV Uncertain significance 891612 19:35531248-35531248 19:35040344-35040344
50 SCN1B NM_001037.5(SCN1B):c.-27G>CSNV Benign/Likely benign 328833 rs758958222 19:35521698-35521698 19:35030794-35030794

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1:

73
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Cys121Trp VAR_010165 rs104894718
2 SCN1B p.Arg125Leu VAR_067341 rs759839781

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 1.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Pathways related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 SCN7A SCN2B SCN1B SCN1A PTPRB
2
Show member pathways
13.04 SCN7A SCN2B SCN1B SCN1A NFASC
3
Show member pathways
12.58 SCN7A SCN2B SCN1B SCN1A
4
Show member pathways
12.4 SCN7A SCN2B SCN1B SCN1A
5
Show member pathways
12.21 SCN7A SCN2B SCN1B SCN1A
6 12.19 SCN7A SCN2B SCN1B SCN1A NFASC
7
Show member pathways
11.45 SCN7A SCN2B SCN1B SCN1A NFASC
8
Show member pathways
11.33 SCN7A SCN2B SCN1B SCN1A
9 11.23 SCN2B SCN1B
10 10.5 SCN7A SCN2B SCN1B SCN1A NFASC

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Cellular components related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.02 SCN7A SCN1B SCN1A PTPRZ1 PTPRB NFASC
2 integral component of membrane GO:0016021 9.97 SCN7A SCN2B SCN1B SCN1A PTPRZ1 PTPRB
3 integral component of plasma membrane GO:0005887 9.8 SCN1B PTPRZ1 PTPRB NFASC GABRG2
4 axon GO:0030424 9.55 SCN7A SCN1B SCN1A NFASC GABRG2
5 T-tubule GO:0030315 9.46 SCN1B SCN1A
6 intercalated disc GO:0014704 9.43 SCN1B SCN1A
7 axon initial segment GO:0043194 9.32 SCN1A NFASC
8 sodium channel complex GO:0034706 9.26 SCN1B SCN1A
9 node of Ranvier GO:0033268 9.13 SCN1B SCN1A NFASC
10 voltage-gated sodium channel complex GO:0001518 8.92 SCN7A SCN2B SCN1B SCN1A

Biological processes related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.77 SCN7A SCN2B SCN1B SCN1A GABRG2
2 ion transmembrane transport GO:0034220 9.72 SCN7A SCN1A GABRG2
3 regulation of ion transmembrane transport GO:0034765 9.56 SCN7A SCN2B SCN1B SCN1A
4 cardiac muscle contraction GO:0060048 9.54 SCN2B SCN1B
5 regulation of heart rate by cardiac conduction GO:0086091 9.52 SCN2B SCN1B
6 neuronal action potential GO:0019228 9.51 SCN7A SCN1A
7 regulation of sodium ion transmembrane transporter activity GO:2000649 9.49 SCN2B SCN1B
8 membrane depolarization during action potential GO:0086010 9.48 SCN7A SCN1A
9 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.46 SCN2B SCN1B
10 sodium ion transport GO:0006814 9.46 SCN7A SCN2B SCN1B SCN1A
11 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.43 SCN2B SCN1B
12 neuronal action potential propagation GO:0019227 9.4 SCN1B SCN1A
13 response to pyrethroid GO:0046684 9.32 SCN2B SCN1B
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.13 SCN2B SCN1B SCN1A
15 sodium ion transmembrane transport GO:0035725 8.92 SCN7A SCN2B SCN1B SCN1A

Molecular functions related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.54 SCN7A SCN1A GABRG2
2 voltage-gated ion channel activity GO:0005244 9.46 SCN7A SCN2B SCN1B SCN1A
3 cation channel activity GO:0005261 9.43 SCN7A SCN1A
4 sodium channel regulator activity GO:0017080 9.4 SCN2B SCN1B
5 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.32 PTPRZ1 PTPRB
6 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.26 SCN2B SCN1B
7 sodium channel activity GO:0005272 9.26 SCN7A SCN2B SCN1B SCN1A
8 voltage-gated sodium channel activity GO:0005248 8.92 SCN7A SCN2B SCN1B SCN1A

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 1

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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