MCID: EPL041
MIFTS: 20

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

Genetic diseases, Rare diseases, Neuronal diseases categories

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

About this section

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

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 45 10
Generalized Epilepsy with Febrile Seizures Plus, Type 3 45 60
 
Febrile Seizures, Familial, 8 45 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM45 611277

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

About this section


OMIM:45 Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures... (611277) more...

MalaCards based summary: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3, is also known as generalized epilepsy with febrile seizures plus, type 3, and has symptoms including autosomal dominant inheritance, 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 (GABA) A receptor, gamma 2).

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

About this section

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

About this section

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:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 generalized tonic-clonic seizures HP:0002069
3 absence seizures HP:0002121
4 febrile seizures HP:0002373
5 variable expressivity HP:0003828
6 focal seizures HP:0007359
7 atonic seizures HP:0010819

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

About this section

Drug clinical trials:

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

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

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

About this section

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

id Genetic test Affiliating Genes
1 Familial Febrile Seizures 822

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

About this section

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

About this section

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

About this section

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

About this section

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

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GABRG2NM_198903.2(GABRG2): c.1103A> T (p.Lys368Met)single nucleotide variantPathogenicrs121909672GRCh37Chr 5, 161576174: 161576174
2GABRG2NM_198903.2(GABRG2): c.245G> A (p.Arg82Gln)single nucleotide variantPathogenic, risk factorrs121909673GRCh37Chr 5, 161520971: 161520971
3GABRG2NM_198903.2(GABRG2): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs121909674GRCh37Chr 5, 161580138: 161580138
4GABRG2GABRG2, IVS6DS, T-G, +2single nucleotide variantPathogenic, risk factor
5GABRG2NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly)single nucleotide variantPathogenicrs267606837GRCh37Chr 5, 161524845: 161524845
6GABRG2NM_198903.2(GABRG2): c.1088G> A (p.Arg363Gln)single nucleotide variantPathogenicrs397514737GRCh37Chr 5, 161576159: 161576159

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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet