MCID: GNR039
MIFTS: 29

Generalized Epilepsy with Febrile Seizures Plus, Type 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 2

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 2:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 2 57 29 6 40 73
Febrile Seizures, Familial, 3a 57 75 29 6
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 57 13
Gefsp2 57 75
Gefs+2 57 75
Generalized Epilepsy with Febrile Seizures Plus 2 75
Febrile Convulsions, Familial, 3a 73
Familial Febrile Convulsions 3 75
Gefs+, Type 2; Gefs+2 57
Gefs+, Type 2 57
Gefs+ Type 2 75
Feb3a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
seizures recur in 33% of patients
between 2 and 7% of children will develop afebrile seizure disorders later in life
onset of febrile seizures typically between 6 months and 6 years of age
simple febrile seizures usually remit by age 6 years
some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)


HPO:

32
generalized epilepsy with febrile seizures plus, type 2:
Onset and clinical course variable expressivity childhood onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 2

UniProtKB/Swiss-Prot : 75 Febrile seizures, familial, 3A: 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. Generalized epilepsy with febrile seizures plus 2: 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.

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 2, also known as febrile seizures, familial, 3a, is related to generalized epilepsy with febrile seizures plus and generalized epilepsy with febrile seizures plus, type 7, and has symptoms including absence seizures and myoclonic seizures. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 2 is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). Related phenotypes are generalized tonic-clonic seizures and absence seizures

OMIM : 57 Mutations in the SCN1A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years (summary by Mantegazza et al., 2005), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 2009). Dravet syndrome (607208), or severe myoclonic epilepsy of infancy, is the most severe phenotype associated with SCN1A mutations. Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. (604403)

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Graphical network of the top 20 diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:



Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 2

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
febrile seizures
seizures, generalized, associated with fever
patients show normal psychomotor development
more

Clinical features from OMIM:

604403

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 absence seizures 32 HP:0002121
3 generalized myoclonic seizures 32 HP:0002123
4 febrile seizures 32 HP:0002373
5 hemiclonic seizures 32 HP:0006813
6 generalized tonic seizures 32 HP:0010818
7 atonic seizures 32 HP:0010819

UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:


absence seizures, myoclonic seizures

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:

# Genetic test Affiliating Genes
1 Febrile Seizures, Familial, 3a 29
2 Generalized Epilepsy with Febrile Seizures Plus, Type 2 29 SCN1A

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:

# Title Authors Year
1
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. ( 12535936 )
2003
2
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. ( 11567038 )
2001

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 2:

75 (show all 44)
# Symbol AA change Variation ID SNP ID
1 SCN1A p.Thr875Met VAR_010110 rs121918623
2 SCN1A p.Arg1648His VAR_010111 rs121918622
3 SCN1A p.Asp188Val VAR_014267 rs121917953
4 SCN1A p.Trp1204Arg VAR_014270 rs121917930
5 SCN1A p.Lys1270Thr VAR_014271 rs121918626
6 SCN1A p.Val1353Leu VAR_014272 rs121917954
7 SCN1A p.Ile1656Met VAR_014273 rs121917955
8 SCN1A p.Met145Thr VAR_025366 rs121918631
9 SCN1A p.Tyr790Cys VAR_029675 rs121918782
10 SCN1A p.Arg946His VAR_029683 rs121917971
11 SCN1A p.Val1428Ala VAR_029700 rs121918627
12 SCN1A p.Arg1657Cys VAR_029709 rs121918811
13 SCN1A p.Ala1685Val VAR_029715 rs121918744
14 SCN1A p.Met1852Thr VAR_029727 rs121918783
15 SCN1A p.Arg377Gln VAR_043354 rs121917957
16 SCN1A p.Met973Val VAR_043359 rs121917991
17 SCN1A p.Val1366Ile VAR_043364 rs121918805
18 SCN1A p.Asp1742Gly VAR_057998 rs121918812
19 SCN1A p.Val1857Leu VAR_057999 rs121918814
20 SCN1A p.Asp1866Tyr VAR_058000 rs121918815
21 SCN1A p.Arg27Thr VAR_064229 rs121917906
22 SCN1A p.Tyr388His VAR_064241 rs121918781
23 SCN1A p.Leu1309Phe VAR_064258 rs121918801
24 SCN1A p.Glu1795Lys VAR_064276 rs121918813
25 SCN1A p.Ser74Pro VAR_064295 rs121917931
26 SCN1A p.Arg859Cys VAR_064306 rs121918784
27 SCN1A p.Phe1687Ser VAR_064324 rs121917932
28 SCN1A p.Phe218Leu VAR_073457 rs970867558
29 SCN1A p.Thr254Ile VAR_073465
30 SCN1A p.Ser291Gly VAR_073472
31 SCN1A p.Arg859His VAR_073501 rs398123588
32 SCN1A p.Ile899Thr VAR_073508
33 SCN1A p.Asn935His VAR_073514
34 SCN1A p.Met960Thr VAR_073522
35 SCN1A p.Met976Ile VAR_073524
36 SCN1A p.Trp1204Ser VAR_073536
37 SCN1A p.Leu1230Phe VAR_073540
38 SCN1A p.Lys1249Asn VAR_073543
39 SCN1A p.Thr1250Met VAR_073544 rs140731963
40 SCN1A p.Asn1414Asp VAR_073571
41 SCN1A p.Arg1596His VAR_073604 rs575368466
42 SCN1A p.Pro1739Leu VAR_073632
43 SCN1A p.Phe1765Leu VAR_073635
44 SCN1A p.Ile1867Thr VAR_073653

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 2:

6
(show top 50) (show all 109)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh37 Chromosome 2, 166848842: 166848842
2 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh38 Chromosome 2, 165992332: 165992332
3 SCN1A NM_006920.4(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant Pathogenic rs121918623 GRCh37 Chromosome 2, 166894608: 166894608
4 SCN1A NM_006920.4(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant Pathogenic rs121918623 GRCh38 Chromosome 2, 166038098: 166038098
5 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh37 Chromosome 2, 166911187: 166911187
6 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh38 Chromosome 2, 166054677: 166054677
7 SCN1A NM_006920.4(SCN1A): c.4024G> C (p.Val1342Leu) single nucleotide variant Pathogenic rs121917954 GRCh37 Chromosome 2, 166859209: 166859209
8 SCN1A NM_006920.4(SCN1A): c.4024G> C (p.Val1342Leu) single nucleotide variant Pathogenic rs121917954 GRCh38 Chromosome 2, 166002699: 166002699
9 SCN1A NM_006920.4(SCN1A): c.4935C> G (p.Ile1645Met) single nucleotide variant Pathogenic rs121917955 GRCh37 Chromosome 2, 166848817: 166848817
10 SCN1A NM_006920.4(SCN1A): c.4935C> G (p.Ile1645Met) single nucleotide variant Pathogenic rs121917955 GRCh38 Chromosome 2, 165992307: 165992307
11 SCN1A NM_006920.4(SCN1A): c.3577T> C (p.Trp1193Arg) single nucleotide variant Pathogenic rs121917930 GRCh37 Chromosome 2, 166870349: 166870349
12 SCN1A NM_006920.4(SCN1A): c.3577T> C (p.Trp1193Arg) single nucleotide variant Pathogenic rs121917930 GRCh38 Chromosome 2, 166013839: 166013839
13 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh37 Chromosome 2, 166909392: 166909392
14 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh38 Chromosome 2, 166052882: 166052882
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.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh37 Chromosome 2, 166848659: 166848659
20 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh38 Chromosome 2, 165992149: 165992149
21 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh37 Chromosome 2, 166850677: 166850677
22 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh38 Chromosome 2, 165994167: 165994167
23 SCN1A NM_006920.4(SCN1A): c.434T> C (p.Met145Thr) single nucleotide variant Pathogenic rs121918631 GRCh37 Chromosome 2, 166912960: 166912960
24 SCN1A NM_006920.4(SCN1A): c.434T> C (p.Met145Thr) single nucleotide variant Pathogenic rs121918631 GRCh38 Chromosome 2, 166056450: 166056450
25 SCN1A NM_006920.4(SCN1A): c.603-91G> A single nucleotide variant drug response rs3812718 GRCh37 Chromosome 2, 166909544: 166909544
26 SCN1A NM_006920.4(SCN1A): c.603-91G> A single nucleotide variant drug response rs3812718 GRCh38 Chromosome 2, 166053034: 166053034
27 SCN1A SCN1A, 1-BP DEL, 2528G deletion Pathogenic
28 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
29 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
30 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh37 Chromosome 2, 166915162: 166915162
31 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh38 Chromosome 2, 166058652: 166058652
32 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh37 Chromosome 2, 166915161: 166915161
33 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh38 Chromosome 2, 166058651: 166058651
34 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878
35 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Likely pathogenic rs121917995 GRCh38 Chromosome 2, 165992368: 165992368
36 SCN1A NM_006920.4(SCN1A): c.5315C> T (p.Ala1772Val) single nucleotide variant Pathogenic rs121917921 GRCh37 Chromosome 2, 166848437: 166848437
37 SCN1A NM_006920.4(SCN1A): c.5315C> T (p.Ala1772Val) single nucleotide variant Pathogenic rs121917921 GRCh38 Chromosome 2, 165991927: 165991927
38 SCN1A NM_006920.4(SCN1A): c.269T> C (p.Phe90Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121918733 GRCh37 Chromosome 2, 166915194: 166915194
39 SCN1A NM_006920.4(SCN1A): c.269T> C (p.Phe90Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121918733 GRCh38 Chromosome 2, 166058684: 166058684
40 SCN1A NM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918788 GRCh37 Chromosome 2, 166894441: 166894441
41 SCN1A NM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918788 GRCh38 Chromosome 2, 166037931: 166037931
42 SCN1A NM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys) single nucleotide variant Pathogenic rs121918775 GRCh37 Chromosome 2, 166894396: 166894396
43 SCN1A NM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys) single nucleotide variant Pathogenic rs121918775 GRCh38 Chromosome 2, 166037886: 166037886
44 SCN1A NM_006920.4(SCN1A): c.1029-1G> C single nucleotide variant Pathogenic rs398123579 GRCh37 Chromosome 2, 166904279: 166904279
45 SCN1A NM_006920.4(SCN1A): c.1029-1G> C single nucleotide variant Pathogenic rs398123579 GRCh38 Chromosome 2, 166047769: 166047769
46 SCN1A NM_006920.4(SCN1A): c.1162delT (p.Tyr388Ilefs) deletion Pathogenic rs398123580 GRCh37 Chromosome 2, 166904145: 166904145
47 SCN1A NM_006920.4(SCN1A): c.1162delT (p.Tyr388Ilefs) deletion Pathogenic rs398123580 GRCh38 Chromosome 2, 166047635: 166047635
48 SCN1A NM_006920.4(SCN1A): c.1766A> T (p.Asp589Val) single nucleotide variant Likely pathogenic rs398123584 GRCh37 Chromosome 2, 166900456: 166900456
49 SCN1A NM_006920.4(SCN1A): c.1766A> T (p.Asp589Val) single nucleotide variant Likely pathogenic rs398123584 GRCh38 Chromosome 2, 166043946: 166043946
50 SCN1A NM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter) single nucleotide variant Pathogenic rs398123585 GRCh37 Chromosome 2, 166900385: 166900385

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 2

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Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 2

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 2

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