MCID: EPL041
MIFTS: 26

Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

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

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

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 49 11
Febrile Seizures, Familial, 8 49 67 24
Generalized Epilepsy with Febrile Seizures Plus 3 67 24
Generalized Epilepsy with Febrile Seizures Plus, Type 3 65
Familial Febrile Convulsions 8 67
 
Gefs+ Type 3 67
Gefsp3 67
Gefs+3 67
Feb8 67

Characteristics:

HPO:

61
epilepsy, generalized, with febrile seizures plus, type 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM49 611277
UMLS65 C1858674

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

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UniProtKB/Swiss-Prot:67 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 gabrg2-related generalized epilepsy with febrile seizures plus and epilepsy, generalized, with febrile seizures plus, type 1, 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:49 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

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

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Symptoms by clinical synopsis from OMIM:

611277

Clinical features from OMIM:

611277

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

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

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

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Interventional clinical trials:

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

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

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

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Animal Models for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 or affiliated genes

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

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

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

67
id Symbol AA change Variation ID SNP ID
1GABRG2p.Arg82GlnVAR_014265rs28933070
2GABRG2p.Lys328MetVAR_014266
3GABRG2p.Arg177GlyVAR_038602

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GABRG2NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln)single nucleotide variantPathogenic, risk factorrs121909673GRCh37Chr 5, 161520971: 161520971
2GABRG2GABRG2, IVS6DS, T-G, +2single nucleotide variantPathogenic, risk factor
3GABRG2NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly)single nucleotide variantPathogenicrs267606837GRCh37Chr 5, 161524845: 161524845

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

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

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

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet