MCID: EPL041
MIFTS: 11

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

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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MalaCards based summary: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 and has symptoms including An important gene associated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 is GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2).

Description from OMIM:46 611277

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

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

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 46


Classifications:

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


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:

(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

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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

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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:

64
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 Name 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 variantPathogenicrs121909673GRCh37Chr 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
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

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Expression patterns in normal tissues for genes affiliated with 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 genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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

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  • Antibodies
  • Proteins
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet