FEB8
MCID: EPL041
MIFTS: 25

Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 (FEB8) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

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

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

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 54 13
Febrile Seizures, Familial, 8 54 66 29
Generalized Epilepsy with Febrile Seizures Plus 3 66 29
Generalized Epilepsy with Febrile Seizures Plus, Type 3 69
Familial Febrile Convulsions 8 66
Gefs+ Type 3 66
Gefsp3 66
Gefs+3 66
Feb8 66

Characteristics:

HPO:

32
epilepsy, generalized, with febrile seizures plus, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 611277

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

UniProtKB/Swiss-Prot : 66 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 febrile seizures, familial, 8, is related to epilepsy, generalized, with febrile seizures plus, type 1 and gabrg2-related generalized epilepsy with febrile seizures plus, and has symptoms including generalized tonic-clonic 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... (611277) more...

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

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

Symptoms by clinical synopsis from OMIM:

611277

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 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 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:

66
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

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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68 Tocris
69 UMLS
70 UMLS via Orphanet
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