GEFSP7
MCID: GNR043
MIFTS: 33

Generalized Epilepsy with Febrile Seizures Plus, Type 7 (GEFSP7)

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

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 7

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 7:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 7 56 29 6
Febrile Seizures, Familial, 3b 56 73 29 6 71
Epilepsy, Generalized, with Febrile Seizures Plus, Type 7 56 13 39
Gefsp7 56 12 73
Gefs+7 56 12 73
Generalized Epilepsy with Febrile Seizures Plus 7 12 73
Generalized Epilepsy with Febrile Seizures Plus Type 7 12
Generalized Epilepsy with Febrile Seizures Plus, 7 71
Familial Febrile Convulsions 3 73
Gefs+, Type 7; Gefs+7 56
Gefs+, Type 7 56
Gefs+ Type 7 73
Feb3b 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
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:

31
generalized epilepsy with febrile seizures plus, type 7:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0111295
OMIM 56 613863
OMIM Phenotypic Series 56 PS121210 PS604233
UMLS 71 C2751778 C3151229

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 7

UniProtKB/Swiss-Prot : 73 Febrile seizures, familial, 3B: 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 7: 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 7, also known as febrile seizures, familial, 3b, is related to generalized epilepsy with febrile seizures plus, type 2 and neuroblastoma, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 7 is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9). Affiliated tissues include eye, 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 SCN9A on chromosome 2q24.3.

OMIM : 56 Mutations in the SCN9A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 7, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by Singh et al., 2009), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). 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. (613863)

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Graphical network of the top 20 diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 7:



Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 7

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 7:

31
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 31 HP:0002069
2 absence seizure 31 HP:0002121
3 febrile seizures 31 HP:0002373
4 focal-onset seizure 31 HP:0007359
5 atonic seizures 31 HP:0010819

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
generalized tonic-clonic seizures
febrile seizures
atonic seizures
absence seizures
seizures, generalized, associated with fever
more

Clinical features from OMIM:

613863

UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 7:


absence seizures

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus, Type 7:

# Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus, Type 7 29 SCN9A
2 Febrile Seizures, Familial, 3b 29

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 7

MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 7:

40
Eye

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 7:

# Title Authors PMID Year
1
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 56 6
19763161 2009
2
Clinical heterogeneity in pedigrees with 2q-linked febrile seizures. 56 6
10852559 2000
3
Locus for febrile seizures. 56 6
10852560 2000
4
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. 56 6
10514109 1999
5
SCN1A Seizure Disorders 6
20301494 2007
6
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. 56
16326807 2005
7
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 56
9894880 1999

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 7

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 7:

6 (show top 50) (show all 403) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN9A NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe)SNV Pathogenic 6359 rs121908913 2:167085479-167085479 2:166228969-166228969
2 SCN9A NM_001365536.1(SCN9A):c.446C>A (p.Pro149Gln)SNV Pathogenic 6369 rs121908921 2:167163041-167163041 2:166306531-166306531
3 SCN9A NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter)SNV Pathogenic 245799 rs187558439 2:167060878-167060878 2:166204368-166204368
4 SCN9A NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter)SNV Pathogenic 373040 rs1057518162 2:167137069-167137069 2:166280559-166280559
5 SCN9A NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter)SNV Pathogenic 374104 rs1057518900 2:167141295-167141295 2:166284785-166284785
6 SCN9A NC_000002.11:g.(?_166731245)_(167168286_?)deldeletion Pathogenic 471073 2:166731245-167168286 2:165874735-166311776
7 SCN9A NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer)duplication Pathogenic 471095 rs1553488759 2:167136886-167136887 2:166280376-166280377
8 SCN9A NM_001365536.1(SCN9A):c.640C>T (p.Arg214Ter)SNV Pathogenic 471161 rs377543079 2:167160796-167160796 2:166304286-166304286
9 SCN9A NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)deletion Pathogenic 471143 rs1553473041 2:167055798-167055798 2:166199288-166199288
10 SCN9A NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter)duplication Pathogenic 471093 rs779327684 2:167137100-167137101 2:166280590-166280591
11 SCN9A NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs)deletion Pathogenic 471099 rs766212849 2:167134709-167134713 2:166278199-166278203
12 SCN9A NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter)SNV Pathogenic 538459 rs1411870484 2:167141033-167141033 2:166284523-166284523
13 SCN9A NM_001365536.1(SCN9A):c.757_758GT[1] (p.Phe254fs)short repeat Pathogenic 570466 rs1559027674 2:167159741-167159742 2:166303231-166303232
14 SCN9A NM_001365536.1(SCN9A):c.2577del (p.Ile859fs)deletion Pathogenic 574992 rs753900410 2:167133790-167133790 2:166277280-166277280
15 SCN9A NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter)SNV Pathogenic 573007 rs769971743 2:167134743-167134743 2:166278233-166278233
16 SCN9A NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs)indel Pathogenic 663011 2:167129276-167129276 2:166272766-166272766
17 SCN9A NM_001365536.1(SCN9A):c.2033del (p.Asp678fs)deletion Pathogenic 657338 2:167138260-167138260 2:166281750-166281750
18 SCN9A NM_001365536.1(SCN9A):c.1129del (p.Thr377fs)deletion Pathogenic 651331 2:167145132-167145132 2:166288622-166288622
19 SCN9A NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter)SNV Pathogenic 653136 2:167134664-167134664 2:166278154-166278154
20 SCN9A NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs)deletion Pathogenic 650286 2:167141168-167141171 2:166284658-166284661
21 SCN9A NM_001365536.1(SCN9A):c.133G>T (p.Glu45Ter)SNV Pathogenic 648252 2:167168134-167168134 2:166311624-166311624
22 SCN9A NM_001365536.1(SCN9A):c.4503+1G>TSNV Pathogenic/Likely pathogenic 245854 rs746241591 2:167060869-167060869 2:166204359-166204359
23 SCN9A NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter)SNV Pathogenic/Likely pathogenic 504889 rs200070962 2:167060506-167060506 2:166203996-166203996
24 SCN9A NM_001365536.1(SCN9A):c.258+1G>ASNV Likely pathogenic 471100 rs755067851 2:167168008-167168008 2:166311498-166311498
25 SCN9A NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met)SNV Likely pathogenic 538468 rs1553491169 2:167145063-167145063 2:166288553-166288553
26 SCN9A NM_001365536.1(SCN9A):c.902-2A>CSNV Likely pathogenic 408576 rs773824421 2:167151174-167151174 2:166294664-166294664
27 SCN9A NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala)SNV Likely pathogenic 408574 rs1060502047 2:167055273-167055273 2:166198763-166198763
28 SCN9A NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)SNV Likely pathogenic 6356 rs121908910 2:167129241-167129241 2:166272731-166272731
29 SCN9A NM_001365536.1(SCN9A):c.4399-1C>TSNV Likely pathogenic 640078 2:167060975-167060975 2:166204465-166204465
30 SCN9A NM_001365536.1(SCN9A):c.4503+1G>ASNV Likely pathogenic 579681 rs746241591 2:167060869-167060869 2:166204359-166204359
31 SCN9A NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)SNV Conflicting interpretations of pathogenicity 30357 rs200945460 2:167137018-167137018 2:166280508-166280508
32 SCN9A NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)SNV Conflicting interpretations of pathogenicity 94090 rs4369876 2:167129256-167129256 2:166272746-166272746
33 SCN9A NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)SNV Conflicting interpretations of pathogenicity 6367 rs121908919 2:167138296-167138296 2:166281786-166281786
34 SCN9A NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)SNV Conflicting interpretations of pathogenicity 193859 rs187453572 2:167142893-167142893 2:166286383-166286383
35 SCN9A NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)SNV Conflicting interpretations of pathogenicity 198153 rs71428908 2:167160752-167160752 2:166304242-166304242
36 SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insTinsertion Conflicting interpretations of pathogenicity 331962 rs767624579 2:167060861-167060862 2:166204351-166204352
37 SCN9A NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)SNV Conflicting interpretations of pathogenicity 331990 rs777699798 2:167142966-167142966 2:166286456-166286456
38 SCN9A NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)SNV Conflicting interpretations of pathogenicity 331991 rs201990547 2:167143101-167143101 2:166286591-166286591
39 SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)SNV Conflicting interpretations of pathogenicity 130265 rs141268327 2:167094638-167094638 2:166238128-166238128
40 SCN9A NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)SNV Conflicting interpretations of pathogenicity 331988 rs199748300 2:167141318-167141318 2:166284808-166284808
41 SCN9A NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)SNV Conflicting interpretations of pathogenicity 331992 rs199986805 2:167145053-167145053 2:166288543-166288543
42 SCN9A NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)SNV Conflicting interpretations of pathogenicity 421969 rs202152511 2:167133648-167133648 2:166277138-166277138
43 SCN9A NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)SNV Conflicting interpretations of pathogenicity 415032 rs200415928 2:167144984-167144984 2:166288474-166288474
44 SCN9A NM_001365536.1(SCN9A):c.3036A>G (p.Lys1012=)SNV Conflicting interpretations of pathogenicity 511554 rs200375962 2:167129224-167129224 2:166272714-166272714
45 SCN9A NM_001365536.1(SCN9A):c.1314+1G>TSNV Conflicting interpretations of pathogenicity 577625 rs1295192882 2:167144946-167144946 2:166288436-166288436
46 SCN9A NM_001365536.1(SCN9A):c.901+5G>CSNV Uncertain significance 573325 rs756005334 2:167159595-167159595 2:166303085-166303085
47 SCN9A NM_001365536.1(SCN9A):c.560C>T (p.Pro187Leu)SNV Uncertain significance 574441 rs771227297 2:167162338-167162338 2:166305828-166305828
48 SCN9A NM_001365536.1(SCN9A):c.253A>G (p.Lys85Glu)SNV Uncertain significance 574457 rs200885240 2:167168014-167168014 2:166311504-166311504
49 SCN9A NM_001365536.1(SCN9A):c.4358T>C (p.Ile1453Thr)SNV Uncertain significance 578051 rs1558963758 2:167083117-167083117 2:166226607-166226607
50 SCN9A NM_001365536.1(SCN9A):c.4139T>C (p.Val1380Ala)SNV Uncertain significance 580052 rs113161460 2:167085268-167085268 2:166228758-166228758

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 7:

73
# Symbol AA change Variation ID SNP ID
1 SCN9A p.Ile62Val VAR_064596 rs121908920
2 SCN9A p.Pro149Gln VAR_064597 rs121908921
3 SCN9A p.Asn641Tyr VAR_064604 rs121908918
4 SCN9A p.Lys666Arg VAR_064605 rs121908919

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 7.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 7

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 7

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 7

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
Content
Loading form....