MCID: EPL041
MIFTS: 25

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 50 12
Febrile Seizures, Familial, 8 50 68 25
Generalized Epilepsy with Febrile Seizures Plus 3 68 25
Familial Febrile Convulsions 8 68
 
Gefs+ Type 3 68
Gefs+3 68
Gefsp3 68
Feb8 68

Characteristics:

HPO:

62
epilepsy, generalized, with febrile seizures plus, type 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 611277

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

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UniProtKB/Swiss-Prot:68 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 seizures, focal, generalized tonic-clonic seizures and absence 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:50 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

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

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

id Genetic test Affiliating Genes
1 Familial Febrile Seizures 825
2 Generalized Epilepsy with Febrile Seizures Plus 325

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:

68
id Symbol AA change Variation ID SNP ID
1GABRG2p.Arg82GlnVAR_014265rs28933070
2GABRG2p.Lys328MetVAR_014266rs121909672
3GABRG2p.Arg177GlyVAR_038602rs267606837

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
4GABRG2NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs)deletionPathogenicrs878854144GRCh38Chr 5, 162097840: 162097840

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet