MCID: GNR038
MIFTS: 33

Generalized Epilepsy with Febrile Seizures Plus, Type 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 57 29 6 73
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 57 13 40
Gefsp1 57 75
Gefs+1 57 75
Generalized Epilepsy with Febrile Seizures Plus 1 75
Gefs+, Type 1; Gefs+1 57
Gefs+, Type 1 57
Gefs+ Type 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
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
incomplete penetrance


HPO:

32
generalized epilepsy with febrile seizures plus, type 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 1

OMIM : 57 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 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 G-Beta Gamma Signaling and Cardiac conduction. Related phenotypes are generalized tonic-clonic seizures and absence seizures

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
febrile seizures
afebrile seizures
generalized tonic-clonic seizures
absence seizures
myotonic seizures
more

Clinical features from OMIM:

604233

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

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 absence seizures 32 HP:0002121
3 febrile seizures 32 HP:0002373
4 atonic seizures 32 HP:0010819

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 SCN1A 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
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. ( 12486163 )
2002

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:

75
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Cys121Trp VAR_010165 rs104894718
2 SCN1B p.Arg125Leu VAR_067341

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

6
(show all 32)
# 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 rs121918623 GRCh37 Chromosome 2, 166894608: 166894608
6 SCN1A NM_006920.4(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant 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 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh37 Chromosome 2, 166904177: 166904177
20 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh38 Chromosome 2, 166047667: 166047667
21 SCN1A NM_006920.5(SCN1A): c.1162T> C (p.Tyr388His) single nucleotide variant Pathogenic rs121918781 GRCh37 Chromosome 2, 166904145: 166904145
22 SCN1A NM_006920.5(SCN1A): c.1162T> C (p.Tyr388His) single nucleotide variant Pathogenic rs121918781 GRCh38 Chromosome 2, 166047635: 166047635
23 SCN1A NM_006920.4(SCN1A): c.2542C> T (p.Arg848Cys) single nucleotide variant Pathogenic rs121918784 GRCh37 Chromosome 2, 166895947: 166895947
24 SCN1A NM_006920.4(SCN1A): c.2542C> T (p.Arg848Cys) single nucleotide variant Pathogenic rs121918784 GRCh38 Chromosome 2, 166039437: 166039437
25 SCN1A NM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr) single nucleotide variant Pathogenic rs121918783 GRCh37 Chromosome 2, 166848230: 166848230
26 SCN1A NM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr) single nucleotide variant Pathogenic rs121918783 GRCh38 Chromosome 2, 165991720: 165991720
27 SCN1B NM_001037.4(SCN1B): c.253C> T (p.Arg85Cys) single nucleotide variant Likely pathogenic rs786205830 GRCh38 Chromosome 19, 35033544: 35033544
28 SCN1B NM_001037.4(SCN1B): c.253C> T (p.Arg85Cys) single nucleotide variant Likely pathogenic rs786205830 GRCh37 Chromosome 19, 35524448: 35524448
29 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh38 Chromosome 19, 35033932: 35033932
30 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh37 Chromosome 19, 35524836: 35524836
31 SCN1B NM_001037.4(SCN1B): c.347delC (p.Ser116Trpfs) deletion Pathogenic rs794727487 GRCh37 Chromosome 19, 35524542: 35524542
32 SCN1B NM_001037.4(SCN1B): c.347delC (p.Ser116Trpfs) deletion Pathogenic rs794727487 GRCh38 Chromosome 19, 35033638: 35033638

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 regulation of ion transmembrane transport GO:0034765 9.43 SCN1A SCN1B SCN7A
3 membrane depolarization during action potential GO:0086010 9.4 SCN1A SCN7A
4 neuronal action potential GO:0019228 9.37 SCN1A SCN7A
5 sodium ion transport GO:0006814 9.33 SCN1A SCN1B SCN7A
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.32 SCN1A SCN1B
7 neuronal action potential propagation GO:0019227 8.96 SCN1A SCN1B
8 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 9.32 SCN1A SCN7A
3 cation channel activity GO:0005261 9.26 SCN1A SCN7A
4 sodium channel activity GO:0005272 9.13 SCN1A SCN1B SCN7A
5 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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