GEFSP1
MCID: GNR038
MIFTS: 37

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

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 72
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 57 13 40
Gefsp1 57 12 74
Gefs+1 57 12 74
Generalized Epilepsy with Febrile Seizures Plus 1 12 74
Generalized Epilepsy with Febrile Seizures Plus Type 1 12
Gefs+, Type 1; Gefs+1 57
Gefs+, Type 1 57
Gefs+ Type 1 74

Characteristics:

OMIM:

57
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:

32
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
MedGen 42 C1858672
UMLS 72 C1858672

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 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. Affiliated tissues include skeletal muscle, and related phenotypes are generalized tonic-clonic seizures and absence 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 : 74 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 all 17)
# Related Disease Score Top Affiliating Genes
1 febrile seizures 29.9 SCN1B SCN1A
2 generalized epilepsy with febrile seizures plus 28.3 SCN7A SCN1B SCN1A LOC102724058
3 visual epilepsy 10.2
4 genetic epilepsy with febrile seizures plus 10.2
5 seizure disorder 10.2
6 familial adenomatous polyposis 10.1
7 generalized epilepsy with febrile seizures plus, type 2 9.9 SCN1A LOC102724058
8 hemiplegic migraine 9.8 SCN1A LOC102724058
9 seizures, benign familial infantile, 3 9.7 SCN1B SCN1A
10 infancy electroclinical syndrome 9.7 SCN1B SCN1A
11 focal epilepsy 9.7 SCN1A LOC102724058
12 epilepsy, nocturnal frontal lobe, 1 9.6 SCN1B SCN1A
13 early myoclonic encephalopathy 9.6 SCN1B SCN1A
14 west syndrome 9.6 SCN1A LOC102724058
15 epilepsy, idiopathic generalized 9.5 SCN1B SCN1A
16 early infantile epileptic encephalopathy 9.4 SCN1A LOC102724058
17 epileptic encephalopathy, early infantile, 6 9.2 SCN7A SCN1B SCN1A

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:

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

Symptoms via clinical synopsis from OMIM:

57
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 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:

41
Skeletal Muscle

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 1

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

(show all 14)
# Title Authors PMID Year
1
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 8 71
14504340 2003
2
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 8 71
12011299 2002
3
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 8 71
9697698 1998
4
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
5
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 8
20437590 2010
6
Genetics of epilepsy syndromes starting in the first year of life. 8
19153375 2009
7
SCN1A Seizure Disorders 71
20301494 2007
8
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 71
11866477 2002
9
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 8
9894880 1999
10
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 8
9126059 1997
11
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 38
12486163 2002
12
Beta subunits: players in neuronal hyperexcitability? 38
11771642 2002
13
Skeletal muscle sodium channel is affected by an epileptogenic beta1 subunit mutation. 38
11263970 2001
14
Sodium channel beta subunits: anything but auxiliary. 38
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 all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A NM_006920.6(SCN1A): c.4024G> C (p.Val1342Leu) single nucleotide variant Pathogenic rs121917954 2:166859209-166859209 2:166002699-166002699
2 SCN1A NM_006920.6(SCN1A): c.4935C> G (p.Ile1645Met) single nucleotide variant Pathogenic rs121917955 2:166848817-166848817 2:165992307-165992307
3 SCN1A NM_006920.6(SCN1A): c.3577T> C (p.Trp1193Arg) single nucleotide variant Pathogenic rs121917930 2:166870349-166870349 2:166013839-166013839
4 SCN1A NM_006920.6(SCN1A): c.3776A> C (p.Lys1259Thr) single nucleotide variant Pathogenic rs121918626 2:166868689-166868689 2:166012179-166012179
5 SCN1A NM_006920.6(SCN1A): c.4250T> C (p.Val1417Ala) single nucleotide variant Pathogenic rs121918627 2:166858983-166858983 2:166002473-166002473
6 SCN1B NM_001037.5(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 19:35524449-35524449 19:35033545-35033545
7 SCN1B NM_001037.5(SCN1B): c.208-2A> C single nucleotide variant Pathogenic rs724159982 19:35524401-35524401 19:35033497-35033497
8 SCN1A NM_006920.6(SCN1A): c.2542C> T (p.Arg848Cys) single nucleotide variant Pathogenic rs121918784 2:166895947-166895947 2:166039437-166039437
9 SCN1A NM_006920.6(SCN1A): c.1162T> C (p.Tyr388His) single nucleotide variant Pathogenic rs121918781 2:166904145-166904145 2:166047635-166047635
10 SCN1A NM_006920.6(SCN1A): c.5522T> C (p.Met1841Thr) single nucleotide variant Pathogenic rs121918783 2:166848230-166848230 2:165991720-165991720
11 subset of 81 genes:KMT2B GRCh37/hg19 19q13.11-13.12(chr19: 35111811-37744992) copy number loss Pathogenic 19:35111811-37744992 :0-0
12 SCN1A NM_006920.6(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant Pathogenic/Likely pathogenic rs121918623 2:166894608-166894608 2:166038098-166038098
13 SCN1B NM_001037.5(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 19:35524558-35524558 19:35033654-35033654
14 SCN1A NM_006920.6(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 2:166904177-166904177 2:166047667-166047667
15 SCN1A NM_006920.6(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 2:166911187-166911187 2:166054677-166054677
16 SCN1A NM_006920.6(SCN1A): c.2010+10G> C single nucleotide variant Likely pathogenic 2:166900202-166900202 2:166043692-166043692
17 SCN1B NM_001037.5(SCN1B): c.253C> T (p.Arg85Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205830 19:35524448-35524448 19:35033544-35033544
18 SCN1B NM_001037.5(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 19:35524836-35524836 19:35033932-35033932
19 SCN1A NM_006920.6(SCN1A): c.80G> C (p.Arg27Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121917906 2:166930052-166930052 2:166073542-166073542
20 SCN1A NM_006920.6(SCN1A): c.3892C> T (p.Leu1298Phe) single nucleotide variant Uncertain significance rs121918801 2:166866306-166866306 2:166009796-166009796
21 SCN1B NM_001037.5(SCN1B): c.158C> A (p.Thr53Asn) single nucleotide variant Uncertain significance 19:35523549-35523549 19:35032645-35032645
22 SCN1B NM_001037.5(SCN1B): c.347C> T (p.Ser116Leu) single nucleotide variant Uncertain significance 19:35524542-35524542 19:35033638-35033638
23 SCN1B NM_001037.5(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 19:35521762-35521762 19:35030858-35030858
24 SCN1B NM_001037.5(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 19:35523525-35523525 19:35032621-35032621
25 SCN1A NM_006920.6(SCN1A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Uncertain significance rs121918813 2:166848402-166848402 2:165991892-165991892
26 SCN1A NM_006920.6(SCN1A): c.5536G> T (p.Val1846Leu) single nucleotide variant not provided rs121918814 2:166848216-166848216 2:165991706-165991706
27 SCN1A NM_006920.6(SCN1A): c.5563G> T (p.Asp1855Tyr) single nucleotide variant not provided rs121918815 2:166848189-166848189 2:165991679-165991679
28 SCN1A NM_006920.6(SCN1A): c.2336A> G (p.Tyr779Cys) single nucleotide variant not provided rs121918782 2:166897787-166897787 2:166041277-166041277
29 SCN1A NM_006920.6(SCN1A): c.4063G> A (p.Val1355Ile) single nucleotide variant not provided rs121918805 2:166859170-166859170 2:166002660-166002660
30 SCN1A NM_006920.6(SCN1A): c.4936C> T (p.Arg1646Cys) single nucleotide variant not provided rs121918811 2:166848816-166848816 2:165992306-165992306
31 SCN1A NM_006920.6(SCN1A): c.5021C> T (p.Ala1674Val) single nucleotide variant not provided rs121918744 2:166848731-166848731 2:165992221-165992221
32 SCN1A NM_006920.6(SCN1A): c.5192A> G (p.Asp1731Gly) single nucleotide variant not provided rs121918812 2:166848560-166848560 2:165992050-165992050
33 SCN1A NM_006920.6(SCN1A): c.220T> C (p.Ser74Pro) single nucleotide variant not provided rs121917931 2:166929912-166929912 2:166073402-166073402
34 SCN1A NM_006920.6(SCN1A): c.5027T> C (p.Phe1676Ser) single nucleotide variant not provided rs121917932 2:166848725-166848725 2:165992215-165992215

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

74
# 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
12.45 SCN7A SCN1B SCN1A
2
Show member pathways
12.27 SCN7A SCN1B SCN1A
3
Show member pathways
12.09 SCN7A SCN1B SCN1A
4 11.97 SCN7A SCN1B SCN1A
5
Show member pathways
11.43 SCN7A SCN1B SCN1A
6
Show member pathways
11.01 SCN7A SCN1B SCN1A
7 10.28 SCN7A SCN1B SCN1A

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

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 SCN7A SCN1B SCN1A
2 ion transmembrane transport GO:0034220 9.46 SCN7A SCN1A
3 regulation of ion transmembrane transport GO:0034765 9.43 SCN7A SCN1B SCN1A
4 neuronal action potential GO:0019228 9.4 SCN7A SCN1A
5 membrane depolarization during action potential GO:0086010 9.37 SCN7A SCN1A
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.32 SCN1B SCN1A
7 neuronal action potential propagation GO:0019227 9.16 SCN1B SCN1A
8 sodium ion transport GO:0006814 9.13 SCN7A SCN1B SCN1A
9 sodium ion transmembrane transport GO:0035725 8.8 SCN7A 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 voltage-gated ion channel activity GO:0005244 9.33 SCN7A SCN1B SCN1A
2 ion channel activity GO:0005216 9.26 SCN7A SCN1A
3 sodium channel activity GO:0005272 9.13 SCN7A SCN1B SCN1A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN7A SCN1B SCN1A

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 1

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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