GEFSP7
MCID: GNR043
MIFTS: 25

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

Categories: 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 58 30 6
Febrile Seizures, Familial, 3b 58 76 6 74
Epilepsy, Generalized, with Febrile Seizures Plus, Type 7 58 13 41
Gefsp7 58 76
Gefs+7 58 76
Generalized Epilepsy with Febrile Seizures Plus, 7 74
Generalized Epilepsy with Febrile Seizures Plus 7 76
Familial Febrile Convulsions 3 76
Gefs+, Type 7; Gefs+7 58
Gefs+, Type 7 58
Gefs+ Type 7 76
Feb3b 76

Characteristics:

OMIM:

58
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:

33
generalized epilepsy with febrile seizures plus, type 7:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 7

UniProtKB/Swiss-Prot : 76 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 generalized epilepsy with febrile seizures plus, 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). Related phenotypes are generalized tonic-clonic seizures and absence seizure

OMIM : 58 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

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

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

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 focal-onset seizure 33 HP:0007359
5 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
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 30 SCN9A

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

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 7

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

# Title Authors Year
1
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. ( 19763161 )
2009
2
Clinical heterogeneity in pedigrees with 2q-linked febrile seizures. ( 10852559 )
2000
3
Locus for febrile seizures. ( 10852560 )
2000
4
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. ( 10514109 )
1999

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 7

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

76
# 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

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

6 (show top 50) (show all 752)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.2986C> T (p.Arg996Cys) single nucleotide variant Likely pathogenic rs121908910 GRCh37 Chromosome 2, 167129241: 167129241
2 SCN9A NM_002977.3(SCN9A): c.2986C> T (p.Arg996Cys) single nucleotide variant Likely pathogenic rs121908910 GRCh38 Chromosome 2, 166272731: 166272731
3 SCN9A NM_002977.3(SCN9A): c.3895G> T (p.Val1299Phe) single nucleotide variant Pathogenic rs121908913 GRCh37 Chromosome 2, 167085479: 167085479
4 SCN9A NM_002977.3(SCN9A): c.3895G> T (p.Val1299Phe) single nucleotide variant Pathogenic rs121908913 GRCh38 Chromosome 2, 166228969: 166228969
5 SCN9A NM_002977.3(SCN9A): c.1921A> T (p.Asn641Tyr) single nucleotide variant Uncertain significance rs121908918 GRCh37 Chromosome 2, 167141016: 167141016
6 SCN9A NM_002977.3(SCN9A): c.1921A> T (p.Asn641Tyr) single nucleotide variant Uncertain significance rs121908918 GRCh38 Chromosome 2, 166284506: 166284506
7 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh37 Chromosome 2, 167138296: 167138296
8 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh38 Chromosome 2, 166281786: 166281786
9 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh37 Chromosome 2, 167168083: 167168083
10 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh38 Chromosome 2, 166311573: 166311573
11 SCN9A NM_002977.3(SCN9A): c.446C> A (p.Pro149Gln) single nucleotide variant Pathogenic rs121908921 GRCh37 Chromosome 2, 167163041: 167163041
12 SCN9A NM_002977.3(SCN9A): c.446C> A (p.Pro149Gln) single nucleotide variant Pathogenic rs121908921 GRCh38 Chromosome 2, 166306531: 166306531
13 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
14 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
15 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh37 Chromosome 2, 167141109: 167141109
16 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh38 Chromosome 2, 166284599: 166284599
17 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh37 Chromosome 2, 167099158: 167099158
18 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh38 Chromosome 2, 166242648: 166242648
19 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh37 Chromosome 2, 167160835: 167160835
20 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh38 Chromosome 2, 166304325: 166304325
21 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
22 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508
23 SCN9A NM_002977.3(SCN9A): c.2794A> C (p.Met932Leu) single nucleotide variant Benign/Likely benign rs12478318 GRCh37 Chromosome 2, 167133540: 167133540
24 SCN9A NM_002977.3(SCN9A): c.2794A> C (p.Met932Leu) single nucleotide variant Benign/Likely benign rs12478318 GRCh38 Chromosome 2, 166277030: 166277030
25 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh37 Chromosome 2, 167129256: 167129256
26 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh38 Chromosome 2, 166272746: 166272746
27 SCN9A NM_002977.3(SCN9A): c.5717T> C (p.Ile1906Thr) single nucleotide variant Uncertain significance rs200876442 GRCh37 Chromosome 2, 167055399: 167055399
28 SCN9A NM_002977.3(SCN9A): c.5717T> C (p.Ile1906Thr) single nucleotide variant Uncertain significance rs200876442 GRCh38 Chromosome 2, 166198889: 166198889
29 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh37 Chromosome 2, 167055393: 167055393
30 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh38 Chromosome 2, 166198883: 166198883
31 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh37 Chromosome 2, 167145106: 167145106
32 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh38 Chromosome 2, 166288596: 166288596
33 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh37 Chromosome 2, 167142979: 167142979
34 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh38 Chromosome 2, 166286469: 166286469
35 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh37 Chromosome 2, 167129258: 167129258
36 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh38 Chromosome 2, 166272748: 166272748
37 SCN9A NM_002977.3(SCN9A): c.3162C> T (p.Ser1054=) single nucleotide variant Conflicting interpretations of pathogenicity rs111674454 GRCh37 Chromosome 2, 167129065: 167129065
38 SCN9A NM_002977.3(SCN9A): c.3162C> T (p.Ser1054=) single nucleotide variant Conflicting interpretations of pathogenicity rs111674454 GRCh38 Chromosome 2, 166272555: 166272555
39 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh37 Chromosome 2, 167108385: 167108385
40 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh38 Chromosome 2, 166251875: 166251875
41 SCN9A NM_002977.3(SCN9A): c.3476T> C (p.Ile1159Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs73019664 GRCh37 Chromosome 2, 167099130: 167099130
42 SCN9A NM_002977.3(SCN9A): c.3476T> C (p.Ile1159Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs73019664 GRCh38 Chromosome 2, 166242620: 166242620
43 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh37 Chromosome 2, 167094730: 167094730
44 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh38 Chromosome 2, 166238220: 166238220
45 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh37 Chromosome 2, 167094638: 167094638
46 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh38 Chromosome 2, 166238128: 166238128
47 SCN9A NM_002977.3(SCN9A): c.3769-8T> C single nucleotide variant Benign rs76550960 GRCh37 Chromosome 2, 167089980: 167089980
48 SCN9A NM_002977.3(SCN9A): c.3769-8T> C single nucleotide variant Benign rs76550960 GRCh38 Chromosome 2, 166233470: 166233470
49 SCN9A NM_002977.3(SCN9A): c.4787C> T (p.Thr1596Ile) single nucleotide variant Uncertain significance rs200470541 GRCh37 Chromosome 2, 167056329: 167056329
50 SCN9A NM_002977.3(SCN9A): c.4787C> T (p.Thr1596Ile) single nucleotide variant Uncertain significance rs200470541 GRCh38 Chromosome 2, 166199819: 166199819

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 7

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