GEFS+1
MCID: GNR038
MIFTS: 35

Generalized Epilepsy with Febrile Seizures Plus, Type 1 (GEFS+1)

Categories: 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 58 30 6 74
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 58 13 41
Gefsp1 58 76
Gefs+1 58 76
Generalized Epilepsy with Febrile Seizures Plus 1 76
Gefs+, Type 1; Gefs+1 58
Gefs+, Type 1 58
Gefs+ Type 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
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


HPO:

33
generalized epilepsy with febrile seizures plus, type 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 1

OMIM : 58 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 generalized epilepsy with febrile seizures plus, 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 G-Beta Gamma Signaling and Cardiac conduction. Related phenotypes are generalized tonic-clonic seizures and absence seizure

UniProtKB/Swiss-Prot : 76 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 3
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

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 febrile seizures 30.0 SCN1A SCN1B
2 generalized epilepsy with febrile seizures plus 29.0 LOC102724058 SCN1A SCN1B SCN7A
3 epilepsy 10.2
4 genetic epilepsy with febrile seizures plus 10.2
5 familial adenomatous polyposis 10.1
6 generalized epilepsy with febrile seizures plus, type 2 9.9 LOC102724058 SCN1A
7 hemiplegic migraine 9.9 LOC102724058 SCN1A
8 seizures, benign familial infantile, 3 9.8 SCN1A SCN1B
9 infancy electroclinical syndrome 9.8 SCN1A SCN1B
10 focal epilepsy 9.8 LOC102724058 SCN1A
11 epilepsy, nocturnal frontal lobe, 1 9.8 SCN1A SCN1B
12 early myoclonic encephalopathy 9.7 SCN1A SCN1B
13 west syndrome 9.7 LOC102724058 SCN1A
14 epilepsy, idiopathic generalized 9.7 SCN1A SCN1B
15 early infantile epileptic encephalopathy 9.6 LOC102724058 SCN1A
16 epileptic encephalopathy, early infantile, 6 9.5 SCN1A SCN1B SCN7A

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:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 absence seizure 33 HP:0002121
3 febrile seizures 33 HP:0002373
4 atonic seizures 33 HP:0010819

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
generalized tonic-clonic seizures
febrile seizures
atonic seizures
absence seizures
afebrile 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 30 SCN1B

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

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 1

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

# Title Authors Year
1
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ( 20298421 )
2010
2
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. ( 14504340 )
2003
3
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. ( 12011299 )
2002
4
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. ( 12486163 )
2002
5
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. ( 11866477 )
2002
6
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. ( 9697698 )
1998

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1

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

76
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Cys121Trp VAR_010165 rs104894718
2 SCN1B p.Arg125Leu VAR_067341 rs759839781

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

6 (show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh37 Chromosome 19, 35524558: 35524558
2 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh38 Chromosome 19, 35033654: 35033654
3 SCN1B NM_001037.4(SCN1B): c.208-2A> C single nucleotide variant Pathogenic rs724159982 GRCh38 Chromosome 19, 35033497: 35033497
4 SCN1B NM_001037.4(SCN1B): c.208-2A> C single nucleotide variant Pathogenic rs724159982 GRCh37 Chromosome 19, 35524401: 35524401
5 SCN1A NM_006920.4(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant Pathogenic/Likely pathogenic rs121918623 GRCh37 Chromosome 2, 166894608: 166894608
6 SCN1A NM_006920.4(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant Pathogenic/Likely pathogenic rs121918623 GRCh38 Chromosome 2, 166038098: 166038098
7 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh37 Chromosome 2, 166911187: 166911187
8 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh38 Chromosome 2, 166054677: 166054677
9 SCN1A NM_006920.4(SCN1A): c.4024G> C (p.Val1342Leu) single nucleotide variant Pathogenic rs121917954 GRCh37 Chromosome 2, 166859209: 166859209
10 SCN1A NM_006920.4(SCN1A): c.4024G> C (p.Val1342Leu) single nucleotide variant Pathogenic rs121917954 GRCh38 Chromosome 2, 166002699: 166002699
11 SCN1A NM_006920.4(SCN1A): c.4935C> G (p.Ile1645Met) single nucleotide variant Pathogenic rs121917955 GRCh37 Chromosome 2, 166848817: 166848817
12 SCN1A NM_006920.4(SCN1A): c.4935C> G (p.Ile1645Met) single nucleotide variant Pathogenic rs121917955 GRCh38 Chromosome 2, 165992307: 165992307
13 SCN1A NM_006920.4(SCN1A): c.3577T> C (p.Trp1193Arg) single nucleotide variant Pathogenic rs121917930 GRCh37 Chromosome 2, 166870349: 166870349
14 SCN1A NM_006920.4(SCN1A): c.3577T> C (p.Trp1193Arg) single nucleotide variant Pathogenic rs121917930 GRCh38 Chromosome 2, 166013839: 166013839
15 SCN1A NM_006920.4(SCN1A): c.3776A> C (p.Lys1259Thr) single nucleotide variant Pathogenic rs121918626 GRCh37 Chromosome 2, 166868689: 166868689
16 SCN1A NM_006920.4(SCN1A): c.3776A> C (p.Lys1259Thr) single nucleotide variant Pathogenic rs121918626 GRCh38 Chromosome 2, 166012179: 166012179
17 SCN1A NM_006920.4(SCN1A): c.4250T> C (p.Val1417Ala) single nucleotide variant Pathogenic rs121918627 GRCh37 Chromosome 2, 166858983: 166858983
18 SCN1A NM_006920.4(SCN1A): c.4250T> C (p.Val1417Ala) single nucleotide variant Pathogenic rs121918627 GRCh38 Chromosome 2, 166002473: 166002473
19 SCN1B NM_001037.4(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 GRCh37 Chromosome 19, 35524449: 35524449
20 SCN1B NM_001037.4(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 GRCh38 Chromosome 19, 35033545: 35033545
21 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh37 Chromosome 2, 166904177: 166904177
22 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh38 Chromosome 2, 166047667: 166047667
23 SCN1A NM_006920.4(SCN1A): c.220T> C (p.Ser74Pro) single nucleotide variant not provided rs121917931 GRCh37 Chromosome 2, 166929912: 166929912
24 SCN1A NM_006920.4(SCN1A): c.220T> C (p.Ser74Pro) single nucleotide variant not provided rs121917931 GRCh38 Chromosome 2, 166073402: 166073402
25 SCN1A NM_006920.4(SCN1A): c.5027T> C (p.Phe1676Ser) single nucleotide variant not provided rs121917932 GRCh37 Chromosome 2, 166848725: 166848725
26 SCN1A NM_006920.4(SCN1A): c.5027T> C (p.Phe1676Ser) single nucleotide variant not provided rs121917932 GRCh38 Chromosome 2, 165992215: 165992215
27 SCN1A NM_006920.4(SCN1A): c.80G> C (p.Arg27Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121917906 GRCh37 Chromosome 2, 166930052: 166930052
28 SCN1A NM_006920.4(SCN1A): c.80G> C (p.Arg27Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121917906 GRCh38 Chromosome 2, 166073542: 166073542
29 SCN1A NM_006920.5(SCN1A): c.1162T> C (p.Tyr388His) single nucleotide variant Pathogenic rs121918781 GRCh37 Chromosome 2, 166904145: 166904145
30 SCN1A NM_006920.5(SCN1A): c.1162T> C (p.Tyr388His) single nucleotide variant Pathogenic rs121918781 GRCh38 Chromosome 2, 166047635: 166047635
31 SCN1A NM_006920.4(SCN1A): c.2336A> G (p.Tyr779Cys) single nucleotide variant not provided rs121918782 GRCh37 Chromosome 2, 166897787: 166897787
32 SCN1A NM_006920.4(SCN1A): c.2336A> G (p.Tyr779Cys) single nucleotide variant not provided rs121918782 GRCh38 Chromosome 2, 166041277: 166041277
33 SCN1A NM_006920.4(SCN1A): c.2542C> T (p.Arg848Cys) single nucleotide variant Pathogenic rs121918784 GRCh37 Chromosome 2, 166895947: 166895947
34 SCN1A NM_006920.4(SCN1A): c.2542C> T (p.Arg848Cys) single nucleotide variant Pathogenic rs121918784 GRCh38 Chromosome 2, 166039437: 166039437
35 SCN1A NM_006920.4(SCN1A): c.3892C> T (p.Leu1298Phe) single nucleotide variant Uncertain significance rs121918801 GRCh37 Chromosome 2, 166866306: 166866306
36 SCN1A NM_006920.4(SCN1A): c.3892C> T (p.Leu1298Phe) single nucleotide variant Uncertain significance rs121918801 GRCh38 Chromosome 2, 166009796: 166009796
37 SCN1A NM_006920.4(SCN1A): c.4063G> A (p.Val1355Ile) single nucleotide variant not provided rs121918805 GRCh37 Chromosome 2, 166859170: 166859170
38 SCN1A NM_006920.4(SCN1A): c.4063G> A (p.Val1355Ile) single nucleotide variant not provided rs121918805 GRCh38 Chromosome 2, 166002660: 166002660
39 SCN1A NM_006920.4(SCN1A): c.4936C> T (p.Arg1646Cys) single nucleotide variant not provided rs121918811 GRCh37 Chromosome 2, 166848816: 166848816
40 SCN1A NM_006920.4(SCN1A): c.4936C> T (p.Arg1646Cys) single nucleotide variant not provided rs121918811 GRCh38 Chromosome 2, 165992306: 165992306
41 SCN1A NM_006920.4(SCN1A): c.5021C> T (p.Ala1674Val) single nucleotide variant not provided rs121918744 GRCh37 Chromosome 2, 166848731: 166848731
42 SCN1A NM_006920.4(SCN1A): c.5021C> T (p.Ala1674Val) single nucleotide variant not provided rs121918744 GRCh38 Chromosome 2, 165992221: 165992221
43 SCN1A NM_006920.4(SCN1A): c.5192A> G (p.Asp1731Gly) single nucleotide variant not provided rs121918812 GRCh37 Chromosome 2, 166848560: 166848560
44 SCN1A NM_006920.4(SCN1A): c.5192A> G (p.Asp1731Gly) single nucleotide variant not provided rs121918812 GRCh38 Chromosome 2, 165992050: 165992050
45 SCN1A NM_006920.4(SCN1A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Uncertain significance rs121918813 GRCh37 Chromosome 2, 166848402: 166848402
46 SCN1A NM_006920.4(SCN1A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Uncertain significance rs121918813 GRCh38 Chromosome 2, 165991892: 165991892
47 SCN1A NM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr) single nucleotide variant Pathogenic rs121918783 GRCh37 Chromosome 2, 166848230: 166848230
48 SCN1A NM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr) single nucleotide variant Pathogenic rs121918783 GRCh38 Chromosome 2, 165991720: 165991720
49 SCN1A NM_006920.4(SCN1A): c.5536G> T (p.Val1846Leu) single nucleotide variant not provided rs121918814 GRCh37 Chromosome 2, 166848216: 166848216
50 SCN1A NM_006920.4(SCN1A): c.5536G> T (p.Val1846Leu) single nucleotide variant not provided rs121918814 GRCh38 Chromosome 2, 165991706: 165991706

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
12.45 SCN1A SCN1B SCN7A
2
Show member pathways
12.27 SCN1A SCN1B SCN7A
3
Show member pathways
12.09 SCN1A SCN1B SCN7A
4 11.97 SCN1A SCN1B SCN7A
5
Show member pathways
11.43 SCN1A SCN1B SCN7A
6
Show member pathways
11.01 SCN1A SCN1B SCN7A
7 10.28 SCN1A SCN1B SCN7A

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 intercalated disc GO:0014704 9.32 SCN1A SCN1B
2 T-tubule GO:0030315 9.26 SCN1A SCN1B
3 node of Ranvier GO:0033268 9.16 SCN1A SCN1B
4 sodium channel complex GO:0034706 8.96 SCN1A SCN1B
5 voltage-gated sodium channel complex GO:0001518 8.8 SCN1A SCN1B SCN7A

Biological processes 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 transport GO:0006811 9.61 SCN1A SCN1B SCN7A
2 ion transmembrane transport GO:0034220 9.46 SCN1A SCN7A
3 regulation of ion transmembrane transport GO:0034765 9.43 SCN1A SCN1B SCN7A
4 neuronal action potential GO:0019228 9.4 SCN1A SCN7A
5 cardiac muscle cell action potential involved in contraction GO:0086002 9.37 SCN1A SCN1B
6 membrane depolarization during action potential GO:0086010 9.32 SCN1A SCN7A
7 neuronal action potential propagation GO:0019227 9.16 SCN1A SCN1B
8 sodium ion transport GO:0006814 9.13 SCN1A SCN1B SCN7A
9 sodium ion transmembrane transport GO:0035725 8.8 SCN1A SCN1B SCN7A

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 voltage-gated ion channel activity GO:0005244 9.33 SCN1A SCN1B SCN7A
2 ion channel activity GO:0005216 9.26 SCN1A SCN7A
3 sodium channel activity GO:0005272 9.13 SCN1A SCN1B SCN7A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN1A SCN1B SCN7A

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 1

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59 OMIM via Orphanet
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70 SNOMED-CT via HPO
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