MCID: EPL100
MIFTS: 47

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases

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

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 50
Juvenile Myoclonic Epilepsy 11 46 23 24 13 52 25
Janz Syndrome 11 46 23 24
Petit Mal, Impulsive 46 23 24
Jme 46 23 52
Susceptibility to Idiopathic Generalized Epilepsy 10 68 25
Generalized Epilepsy with Febrile Seizures Plus 5 68 25
Susceptibility to Juvenile Myoclonic Epilepsy 7 68 25
Myoclonic Epilepsy, Juvenile 37 66
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 12
Epilepsy, Idiopathic Generalized, 10 50
Epilepsy, Idiopathic Generalized 10 68
 
Myoclonic Epilepsy, Juvenile, 1 46
Juvenile Myoclonic Epilepsy 7 68
Adolescent Myoclonic Epilepsy 24
Epilepsy, Juvenile Myoclonic 50
Myoclonic Epilepsy Juvenile 48
Juvenile Myoclonus Epilepsy 52
Gefs+ Type 5 68
Gefsp5 68
Gefs+5 68
Eig10 68
Ejm7 68
Ejm 46

Characteristics:

Orphanet epidemiological data:

52
juvenile myoclonic epilepsy:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy

HPO:

62
epilepsy, generalized, with febrile seizures plus, type 5:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 613060
Disease Ontology11 DOID:4890
NCIt43 C84796
Orphanet52 ORPHA307
SNOMED-CT60 6204001
ICD10 via Orphanet29 G40.3
MESH via Orphanet38 D020190
UMLS via Orphanet67 C0270853

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

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Genetics Home Reference:24 Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, 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, stress, or alcohol consumption.

MalaCards based summary: Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, also known as juvenile myoclonic epilepsy, is related to idiopathic generalized epilepsy and epilepsy, juvenile myoclonic 5, and has symptoms including myoclonus, seizures and epileptic aura. An important gene associated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 is GABRD (Gamma-Aminobutyric Acid Type A Receptor Delta Subunit), and among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and Ligand-gated ion channel transport. Affiliated tissues include brain, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

Disease Ontology:11 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:46 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. seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. onset typically occurs around adolesence in otherwise healthy children. the exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. last updated: 3/16/2016

OMIM:50 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically... (613060) more...

UniProtKB/Swiss-Prot:68 Epilepsy, idiopathic generalized 10: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Generalized epilepsy with febrile seizures plus 5: 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. Juvenile myoclonic epilepsy 7: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

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:

epilepsy, generalized, with febrile seizures plus, type 5 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 Generalized Epilepsy with Febrile Seizures Plus, Type 9
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus
Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus
Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus Stx1b-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 36)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic generalized epilepsy29.4CLCN2, EFHC1, GABRA1, GABRA6, GABRB3, GABRG2
2epilepsy, juvenile myoclonic 512.1
3cacnb4-related juvenile myoclonic epilepsy12.1
4clcn2-related juvenile myoclonic epilepsy12.1
5efhc1-related juvenile myoclonic epilepsy12.1
6ejm2-related juvenile myoclonic epilepsy12.1
7ejm3-related juvenile myoclonic epilepsy12.1
8ejm4-related juvenile myoclonic epilepsy12.1
9gabra1-related juvenile myoclonic epilepsy12.1
10gabrd-related juvenile myoclonic epilepsy12.1
11epilepsy, idiopathic generalized 911.1
12epilepsy, idiopathic generalized 1111.1
13gabrd-related generalized epilepsy with febrile seizures plus11.0
14myoclonic epilepsy, juvenile 110.9
15myopia 810.7CLCN2, GABRG2
16epilepsy10.7
17leukoencephalopathy with ataxia10.6CLCN2, GABRG2
18gamma-amino butyric acid metabolism disorder10.6CLCN2, EFHC1, GJA8
19childhood malignant hemangiopericytoma10.6EFHC1, PAQR8, TBC1D24
20cerebral ventricle cancer10.6EFHC1, KCNQ3, TBC1D24
21granulomatous hepatitis10.5GABRD, GABRG2, TBC1D24
22blount's disease10.5KCNQ3, TBC1D24
23active vestibular meniere's disease10.5GABRB3, LGI1
24frontal lobe epilepsy10.5GABRG2, KCNQ3
25brachydactyly, type e10.5GABRA1, GABRD, GABRG2, TBC1D24
26epilepsy, juvenile absence 110.5BRD2, EFHC1, GABRA1, GABRG2
27childhood electroclinical syndrome10.4KCNQ3, TBC1D24
28adolescence-adult electroclinical syndrome10.2GABRG2, TBC1D24
29gaba aminotransferase deficiency10.2GABRA1, GABRD, GABRG2, KCNQ3, ME2, TBC1D24
30epilepsy, generalized, with febrile seizures plus, type 110.1
31childhood absence epilepsy10.1
32early onset absence epilepsy10.1CLCN2, EFHC1, GABRA1, GABRB3, GABRG2, GJA8
33mononeuritis multiplex10.0CACNB4, CLCN2, EFHC1, GABRA1, GABRB3, GABRD
34urethral stricture9.8CACNB4, CLCN2, EFHC1, GABRA1, GABRB3, GABRD
35ohtahara syndrome9.6CACNB4, CLCN2, EFHC1, GABRA1, GABRB3, GABRD
36epilepsy, generalized, with febrile seizures plus, type 57.9BRD2, CACNB4, CLCN2, EFHC1, EJM2, 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:

id Description Frequency HPO Source Accession
1 generalized tonic-clonic seizures HP:0002069
2 absence seizures HP:0002121
3 generalized myoclonic seizures HP:0002123
4 febrile seizures HP:0002373
5 focal seizures HP:0007359

UMLS symptoms related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:


myoclonus, seizures, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Physical Exercise in Subjects With Juvenile Myoclonic EpilepsyRecruitingNCT01450423Phase 2

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


Cochrane evidence based reviews: myoclonic epilepsy, juvenile

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 Epilepsy25 23 GABRD
2 Epilepsy, Idiopathic Generalized 1025
3 Epilepsy, Juvenile Myoclonic 725
4 Generalized Epilepsy with Febrile Seizures Plus Type 525

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

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MalaCards organs/tissues related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

34
Brain

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.9CACNB4, GABRA1, GABRA6, GABRB3, GABRD, TRAM2
2MP:00053868.5BRD2, CACNB4, CLCN2, EFHC1, GABRA1, GABRA6
3MP:00036318.5BRD2, CACNB4, CLCN2, EFHC1, GABRA1, GABRA6

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:

68
id Symbol AA change Variation ID SNP ID
1GABRDp.Glu177AlaVAR_043151rs121434580

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.2GABRA1, GABRG2
2
Show member pathways
9.8GABRA1, GABRA6, GABRB3, GABRG2
3
Show member pathways
9.8GABRA1, GABRA6, GABRB3, GABRG2
49.7GABRA1, GABRA6, GABRB3, GABRD, GABRG2
59.7GABRA1, GABRA6, GABRB3, GABRD, GABRG2
6
Show member pathways
9.7GABRA1, GABRA6, GABRB3, GABRD, GABRG2
7
Show member pathways
9.7CLCN2, GABRA1, GABRA6, GABRB3, GABRG2
8
Show member pathways
9.6CACNB4, GABRA1, GABRA6, GABRB3, GABRD, GABRG2
9
Show member pathways
9.5GABRA1, GABRA6, GABRB3, GABRD, GABRG2, KCNQ3
10
Show member pathways
9.5CACNB4, GABRA1, GABRA6, GABRB3, GABRG2, KCNQ3

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
1GABA-A receptor complexGO:190271110.4GABRA1, GABRA6, GABRB3, GABRD, GABRG2
2chloride channel complexGO:003470710.1CLCN2, GABRA1, GABRA6, GABRB3, GABRD, GABRG2
3postsynaptic membraneGO:00452119.9GABRA1, GABRA6, GABRB3, GABRD, GABRG2
4cell junctionGO:00300549.6GABRA1, GABRA6, GABRB3, GABRD, GABRG2, LGI1
5integral component of plasma membraneGO:00058879.4CLCN2, GABRA1, GABRA6, GABRB3, GABRD, GABRG2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:000721410.4CACNB4, GABRA1, GABRA6, GABRG2
2synaptic transmission, GABAergicGO:005193210.3GABRA1, GABRG2
3cellular response to histamineGO:007142010.2GABRA1, GABRB3, GABRG2
4chloride transmembrane transportGO:19024769.9CLCN2, GABRA1, GABRA6, GABRB3, GABRD, GABRG2
5chemical synaptic transmissionGO:00072689.9CACNB4, GABRD, GABRG2, KCNQ3
6chemical synaptic transmission, postsynapticGO:00995659.8GABRA6, GABRG2
7ion transmembrane transportGO:00342209.8CLCN2, GABRA1, GABRA6, GABRB3, GABRG2
8transportGO:00068109.5CACNB4, CLCN2, GABRA1, GABRA6, GABRB3, GABRD

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

idNameGO IDScoreTop Affiliating Genes
1GABA-gated chloride ion channel activityGO:002285110.6GABRA1, GABRB3
2benzodiazepine receptor activityGO:000850310.5GABRA6, GABRG2
3extracellular ligand-gated ion channel activityGO:000523010.2GABRA1, GABRA6, GABRD, GABRG2
4GABA-A receptor activityGO:000489010.1GABRA1, GABRA6, GABRB3, GABRD, GABRG2
5chloride channel activityGO:00052549.9GABRA1, GABRA6, GABRD, GABRG2

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

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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