MCID: EPL100
MIFTS: 45

Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Genetics Home Reference:21 Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 8 and 20, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, or alcohol consumption.

MalaCards based summary: Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, also known as juvenile myoclonic epilepsy, is related to childhood absence epilepsy and epilepsy, idiopathic generalized, 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 5 is GABRD (gamma-aminobutyric acid (GABA) A receptor, delta), and among its related pathways are GABA signaling in brain and Apoptosis Pathway. The compounds thip and (+)-bicuculline have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and reproductive system.

Disease Ontology:9 A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.

NIH Rare Diseases:41 Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (gtcss), and sometimes, absence seizures. the seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning, especially if they are sleep-deprived. drinking alcohol and psychological stress may also make these seizures more likely. onset typically occurs around adolesence in otherwise healthy children. the exact cause of juvenile myoclonic epilepsy remains unknown. although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. last updated: 1/20/2009

OMIM:45 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically... (613060) more...

Aliases & Classifications for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 38NCIt, 33MeSH, 27ICD9CM, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Aliases & Descriptions:

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 45
Juvenile Myoclonic Epilepsy 9 41 20 21 47
Janz Syndrome 9 41 21
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 10 22
Epilepsy, Idiopathic Generalized, 10 45 22
Myoclonic Epilepsy Juvenile 43 22
Petit Mal, Impulsive 41 21
Jme 41 47
 
Epilepsy, Idiopathic Generalized 10 45
Myoclonic Epilepsy, Juvenile, 1 41
Adolescent Myoclonic Epilepsy 21
Epilepsy, Juvenile Myoclonic 45
Myoclonic Epilepsy, Juvenile 60
Juvenile Myoclonus Epilepsy 47
Ejm 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
juvenile myoclonic epilepsy:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy


External Ids:

OMIM45 613060
Disease Ontology9 DOID:4890
NCIt38 C84796
MeSH33 D020190
ICD9CM27 345.1
SNOMED-CT55 6204001
Orphanet47 307
MESH via Orphanet34 D020190
ICD10 via Orphanet26 G40.3
UMLS via Orphanet61 C0270853

Related Diseases for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Generalized Epilepsy with Febrile Seizures Plus, Type 9 epilepsy, generalized, with febrile seizures plus, type 5
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus
Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus
Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus

Diseases related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1childhood absence epilepsy30.9GABRA1
2epilepsy, idiopathic generalized30.1EFHC1, KCNQ3
3epilepsy syndrome30.1KCNQ3, CACNB4, GABRA1, CLCN2
4status epilepticus10.6
5epilepsy, juvenile myoclonic 510.5
6temporal lobe epilepsy10.5
7focal epilepsy10.5
8gabra1-related juvenile myoclonic epilepsy10.5
9cacnb4-related juvenile myoclonic epilepsy10.5
10clcn2-related juvenile myoclonic epilepsy10.5
11gabrd-related juvenile myoclonic epilepsy10.5
12efhc1-related juvenile myoclonic epilepsy10.5
13ejm2-related juvenile myoclonic epilepsy10.5
14ejm3-related juvenile myoclonic epilepsy10.5
15ejm4-related juvenile myoclonic epilepsy10.5
16migraine10.4
17myoclonic epilepsy, juvenile 110.4
18cerebritis10.4
19autosomal recessive disease10.4
20personality disorder10.4
21headache10.4
22myoclonus epilepsy10.4
23epilepsy, idiopathic generalized 910.2
24epilepsy, idiopathic generalized 1110.2
25photoparoxysmal response 110.2
26velocardiofacial syndrome10.2
27west syndrome10.2
28insulinoma10.2
29neuronitis10.2
30frontal lobe epilepsy10.2
31benign epilepsy with centrotemporal spikes10.2
32graves' disease10.2
33cranial nerve palsy10.2
34agenesis of the corpus callosum10.2
35febrile seizures10.2
36myoclonus10.2
37dravet syndrome10.2GABRD
38episodic ataxia10.1KCNQ3, CACNB4
39juvenile absence epilepsy9.7EFHC1, CLCN2, GABRA1

Graphical network of the top 20 diseases related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:



Diseases related to epilepsy, generalized, with febrile seizures plus, type 5

Symptoms for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Symptoms by clinical synopsis from OMIM:

613060

Clinical features from OMIM:

613060

HPO human phenotypes related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

(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 generalized myoclonic seizures HP:0002123
5 febrile seizures HP:0002373
6 phenotypic variability HP:0003812
7 focal seizures HP:0007359

Drugs & Therapeutics for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

Search NIH Clinical Center for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

Genetic Tests for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Genetic tests related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

id Genetic test Affiliating Genes
1 Juvenile Myoclonic Epilepsy20 22 GABRD
2 Epilepsy, Idiopathic Generalized 1022
3 Generalized Epilepsy with Febrile Seizures Plus Type 522

Anatomical Context for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Animal Models for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 or affiliated genes

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MGI Mouse Phenotypes related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9CACNB4, GABRD, GABRA1
2MP:00053898.7CLCN2, CACNB4, GABRD, GABRA1
3MP:00053867.4CACNB4, CLCN2, GABRD, GABRA1, KCNQ3, EFHC1
4MP:00036317.3GABRD, CACNB4, EFHC1, CLCN2, GABRA1, KCNQ3

Publications for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

62
id Symbol AA change Variation ID SNP ID
1GABRDp.Glu177AlaVAR_043151

Clinvar genetic disease variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GABRA1NC_000005.10insertionrisk factorNCBI36Chr 5, 161897090: 161897091
2GABRA1NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn)single nucleotide variantrisk factorGRCh38Chr 5, 161882653: 161882653
3GABRA1NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp)single nucleotide variantrisk factorrs121434579GRCh37Chr 5, 161322780: 161322780
4GABRA1GABRA1, 1-BP DEL, 975Cdeletionrisk factor
5CACNB4NM_000726.3(CACNB4): c.311G> T (p.Cys104Phe)single nucleotide variantPathogenic, risk factorrs1805031GRCh37Chr 2, 152737393: 152737393
6CLCN2NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln)single nucleotide variantrisk factorrs137852682GRCh37Chr 3, 184071575: 184071575

Expression for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Search GEO for disease gene expression data for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5.

Pathways for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Compounds for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Compounds related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 according to GeneCards Suite gene sharing:

(show all 25)
idCompoundScoreTop Affiliating Genes
1thip2810.0GABRA1, GABRD
2(+)-bicuculline5910.0GABRD, GABRA1
3(-)-bicuculline methochloride5910.0GABRD, GABRA1
4(-)-bicuculline methiodide5910.0GABRD, GABRA1
5sr 95531 hydrobromide5910.0GABRD, GABRA1
6estazolam43 1211.0GABRA1, GABRD
7quazepam43 1211.0GABRD, GABRA1
8bromazepam43 1210.9GABRA1, GABRD
9nitrazepam43 1210.9GABRA1, GABRD
10flurazepam43 1210.9GABRD, GABRA1
11lorazepam43 49 1211.9GABRD, GABRA1
12chlordiazepoxide43 1210.9GABRA1, GABRD
13oxazepam49 1210.9GABRA1, GABRD
14clonazepam43 1210.9GABRD, GABRA1
15tbps43 2810.8GABRD, GABRA1
16zn2+289.8GABRA1, CLCN2
17muscimol43 59 2811.8GABRA1, GABRD
18picrotoxin43 28 1211.8GABRD, GABRA1
19triazolam43 1210.8GABRD, GABRA1
20alprazolam43 1210.7GABRA1, GABRD
21clobazam43 49 1211.6GABRA1, GABRD
22diazepam43 28 49 1212.6GABRA1, GABRD
23Gamma-Aminobutyric acid249.5GABRD, GABRA1
24chlorine43 2410.5GABRA1, GABRD, CLCN2
25midazolam43 49 1211.3GABRA1, GABRD

GO Terms for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Cellular components related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1postsynaptic membraneGO:00452119.6GABRA1, GABRD
2chloride channel complexGO:00347078.8GABRA1, GABRD, CLCN2

Biological processes related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion transmembrane transportGO:00342209.5GABRA1, CLCN2
2gamma-aminobutyric acid signaling pathwayGO:00072149.3CACNB4, GABRA1
3transportGO:00068108.7GABRA1, GABRD, CACNB4, CLCN2
4synaptic transmissionGO:00072688.6KCNQ3, CACNB4, GABRD, GABRA1

Molecular functions related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.6GABRA1, GABRD
2GABA-A receptor activityGO:00048909.5GABRA1, GABRD
3extracellular ligand-gated ion channel activityGO:00052309.3GABRA1, GABRD

Products for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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Sources for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
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29KEGG
33MeSH
34MESH via Orphanet
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38NCIt
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43Novoseek
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46OMIM via Orphanet
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51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet