MCID: EPL041
MIFTS: 25

Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

MalaCards integrated aliases for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 54 13
Generalized Epilepsy with Febrile Seizures Plus 3 71 29
Febrile Seizures, Familial, 8 54 71
Generalized Epilepsy with Febrile Seizures Plus, Type 3 69
Familial Febrile Convulsions 8 71
Familial Febrile Seizures 8 29
Gefs+ Type 3 71
Gefsp3 71
Gefs+3 71
Feb8 71

Characteristics:

OMIM:

54
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
epilepsy, generalized, with febrile seizures plus, type 3:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

UniProtKB/Swiss-Prot : 71 Febrile seizures, familial, 8: 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 3: 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 : Epilepsy, Generalized, with Febrile Seizures Plus, Type 3, also known as generalized epilepsy with febrile seizures plus 3, is related to gabrg2-related generalized epilepsy with febrile seizures plus, and has symptoms including focal seizures, absence seizures and febrile seizures. An important gene associated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit).

OMIM : 54
Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2; 607681). 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. (611277)

Related Diseases for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Symptoms & Phenotypes for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Symptoms via clinical synopsis from OMIM:

54

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

Clinical features from OMIM:

611277

Human phenotypes related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

32
id Description HPO Frequency HPO Source Accession
1 focal seizures 32 HP:0007359
2 absence seizures 32 HP:0002121
3 febrile seizures 32 HP:0002373
4 generalized tonic-clonic seizures 32 HP:0002069
5 atonic seizures 32 HP:0010819

UMLS symptoms related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:


seizures, focal

Drugs & Therapeutics for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Genetic Tests for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Genetic tests related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

id Genetic test Affiliating Genes
1 Familial Febrile Seizures 8 29
2 Generalized Epilepsy with Febrile Seizures Plus 3 29

Anatomical Context for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Publications for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

71
id Symbol AA change Variation ID SNP ID
1 GABRG2 p.Arg82Gln VAR_014265 rs28933070
2 GABRG2 p.Lys328Met VAR_014266 rs121909672
3 GABRG2 p.Arg177Gly VAR_038602 rs267606837
4 GABRG2 p.Arg323Gln VAR_078620 rs397514737

ClinVar genetic disease variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GABRG2 NM_198903.2(GABRG2): c.1103A> T (p.Lys368Met) single nucleotide variant Pathogenic rs121909672 GRCh37 Chromosome 5, 161576174: 161576174
2 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic,risk factor rs121909673 GRCh37 Chromosome 5, 161520971: 161520971
3 GABRG2 NM_198903.2(GABRG2): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs121909674 GRCh37 Chromosome 5, 161580138: 161580138
4 GABRG2 GABRG2, IVS6DS, T-G, +2 single nucleotide variant Pathogenic,risk factor
5 GABRG2 NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly) single nucleotide variant Pathogenic rs267606837 GRCh37 Chromosome 5, 161524845: 161524845
6 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh37 Chromosome 5, 161576159: 161576159
7 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh37 Chromosome 5, 161524846: 161524846
8 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh38 Chromosome 5, 162149210: 162149210

Expression for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Search GEO for disease gene expression data for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3.

Pathways for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

GO Terms for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Sources for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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