MCID: GNR043
MIFTS: 23

Generalized Epilepsy with Febrile Seizures Plus, Type 7

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 57 29 6
Febrile Seizures, Familial, 3b 57 75 6 73
Epilepsy, Generalized, with Febrile Seizures Plus, Type 7 57 13 40
Gefsp7 57 75
Gefs+7 57 75
Generalized Epilepsy with Febrile Seizures Plus, 7 73
Generalized Epilepsy with Febrile Seizures Plus 7 75
Familial Febrile Convulsions 3 75
Gefs+, Type 7; Gefs+7 57
Gefs+, Type 7 57
Gefs+ Type 7 75
Feb3b 75

Characteristics:

OMIM:

57
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:

32
generalized epilepsy with febrile seizures plus, type 7:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 7

UniProtKB/Swiss-Prot : 75 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). Related phenotypes are generalized tonic-clonic seizures and absence seizures

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, generalized, associated with fever
generalized tonic-clonic seizures
febrile seizures
afebrile seizures
absence seizures
more

Clinical features from OMIM:

613863

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

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 focal seizures 32 HP:0007359
5 atonic seizures 32 HP:0010819

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

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

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 7

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:

75
# 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 510)
# 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.446C> A (p.Pro149Gln) single nucleotide variant Pathogenic rs121908921 GRCh37 Chromosome 2, 167163041: 167163041
4 SCN9A NM_002977.3(SCN9A): c.446C> A (p.Pro149Gln) single nucleotide variant Pathogenic rs121908921 GRCh38 Chromosome 2, 166306531: 166306531
5 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
6 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
7 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
8 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
9 SCN9A NM_002977.3(SCN9A): c.3370C> T (p.Pro1124Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184563685 GRCh37 Chromosome 2, 167108344: 167108344
10 SCN9A NM_002977.3(SCN9A): c.3370C> T (p.Pro1124Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184563685 GRCh38 Chromosome 2, 166251834: 166251834
11 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
12 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
13 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
14 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
15 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
16 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
17 SCN9A NM_002977.3(SCN9A): c.1326G> A (p.Ala442=) single nucleotide variant Conflicting interpretations of pathogenicity rs200065104 GRCh37 Chromosome 2, 167143122: 167143122
18 SCN9A NM_002977.3(SCN9A): c.1326G> A (p.Ala442=) single nucleotide variant Conflicting interpretations of pathogenicity rs200065104 GRCh38 Chromosome 2, 166286612: 166286612
19 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh37 Chromosome 2, 167138321: 167138321
20 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh38 Chromosome 2, 166281811: 166281811
21 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
22 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265
23 SCN9A NM_002977.3(SCN9A): c.3316G> T (p.Val1106Leu) single nucleotide variant Uncertain significance rs200817435 GRCh37 Chromosome 2, 167128911: 167128911
24 SCN9A NM_002977.3(SCN9A): c.3316G> T (p.Val1106Leu) single nucleotide variant Uncertain significance rs200817435 GRCh38 Chromosome 2, 166272401: 166272401
25 SCN9A NM_002977.3(SCN9A): c.3328C> T (p.Arg1110Trp) single nucleotide variant Benign/Likely benign rs190664764 GRCh37 Chromosome 2, 167108386: 167108386
26 SCN9A NM_002977.3(SCN9A): c.3328C> T (p.Arg1110Trp) single nucleotide variant Benign/Likely benign rs190664764 GRCh38 Chromosome 2, 166251876: 166251876
27 SCN9A NM_002977.3(SCN9A): c.3473A> C (p.Asn1158Thr) single nucleotide variant Benign/Likely benign rs151241025 GRCh37 Chromosome 2, 167099133: 167099133
28 SCN9A NM_002977.3(SCN9A): c.3473A> C (p.Asn1158Thr) single nucleotide variant Benign/Likely benign rs151241025 GRCh38 Chromosome 2, 166242623: 166242623
29 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh37 Chromosome 2, 167094721: 167094721
30 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh38 Chromosome 2, 166238211: 166238211
31 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
32 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
33 SCN9A NM_002977.3(SCN9A): c.4040G> A (p.Arg1347Gln) single nucleotide variant Uncertain significance rs200163716 GRCh37 Chromosome 2, 167085334: 167085334
34 SCN9A NM_002977.3(SCN9A): c.4040G> A (p.Arg1347Gln) single nucleotide variant Uncertain significance rs200163716 GRCh38 Chromosome 2, 166228824: 166228824
35 SCN9A NM_002977.3(SCN9A): c.4323C> T (p.Phe1441=) single nucleotide variant Benign/Likely benign rs201145311 GRCh37 Chromosome 2, 167083119: 167083119
36 SCN9A NM_002977.3(SCN9A): c.4323C> T (p.Phe1441=) single nucleotide variant Benign/Likely benign rs201145311 GRCh38 Chromosome 2, 166226609: 166226609
37 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh37 Chromosome 2, 167083161: 167083161
38 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh38 Chromosome 2, 166226651: 166226651
39 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh37 Chromosome 2, 167055370: 167055370
40 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh38 Chromosome 2, 166198860: 166198860
41 SCN9A NM_002977.3(SCN9A): c.688+9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs188814235 GRCh37 Chromosome 2, 167160739: 167160739
42 SCN9A NM_002977.3(SCN9A): c.688+9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs188814235 GRCh38 Chromosome 2, 166304229: 166304229
43 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh37 Chromosome 2, 167160752: 167160752
44 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh38 Chromosome 2, 166304242: 166304242
45 SCN9A NM_002977.3(SCN9A): c.4115A> G (p.Lys1372Arg) single nucleotide variant Uncertain significance rs779536952 GRCh37 Chromosome 2, 167085259: 167085259
46 SCN9A NM_002977.3(SCN9A): c.4115A> G (p.Lys1372Arg) single nucleotide variant Uncertain significance rs779536952 GRCh38 Chromosome 2, 166228749: 166228749
47 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh37 Chromosome 2, 167055438: 167055438
48 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh38 Chromosome 2, 166198928: 166198928
49 SCN9A NM_002977.3(SCN9A): c.4612T> C (p.Trp1538Arg) single nucleotide variant Benign/Likely benign rs202084411 GRCh38 Chromosome 2, 166204084: 166204084
50 SCN9A NM_002977.3(SCN9A): c.4612T> C (p.Trp1538Arg) single nucleotide variant Benign/Likely benign rs202084411 GRCh37 Chromosome 2, 167060594: 167060594

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