MCID: EPL100
MIFTS: 46

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:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 11diseasecard, 67UniProtKB/Swiss-Prot, 47Novoseek, 24GTR, 36MeSH, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The 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 49
Juvenile Myoclonic Epilepsy 10 45 22 23 12 51
Janz Syndrome 10 45 22 23
Myoclonic Epilepsy, Juvenile 36 24 65
Petit Mal, Impulsive 45 22 23
Jme 45 22 51
Susceptibility to Idiopathic Generalized Epilepsy 10 67 24
Generalized Epilepsy with Febrile Seizures Plus 5 67 24
Susceptibility to Juvenile Myoclonic Epilepsy 7 67 24
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 11
Generalized Epilepsy with Febrile Seizures Plus, Type 5 65
Epilepsy, Idiopathic Generalized, 10 49
Epilepsy, Idiopathic Generalized 10 67
 
Myoclonic Epilepsy, Juvenile, 1 45
Adolescent Myoclonic Epilepsy 23
Juvenile Myoclonic Epilepsy 7 67
Epilepsy, Juvenile Myoclonic 49
Juvenile Myoclonus Epilepsy 51
Myoclonic Epilepsy Juvenile 47
Gefs+ Type 5 67
Gefsp5 67
Gefs+5 67
Eig10 67
Ejm7 67
Ejm 45

Characteristics:

Orphanet epidemiological data:

51
juvenile myoclonic epilepsy:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy

HPO:

61
epilepsy, generalized, with febrile seizures plus, type 5:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM49 613060
Disease Ontology10 DOID:4890
NCIt42 C84796
Orphanet51 307
SNOMED-CT59 6204001
ICD10 via Orphanet28 G40.3
MESH via Orphanet37 D020190
UMLS via Orphanet66 C0270853
UMLS65 C3501643, C0270853

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

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Genetics Home Reference:23 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 epilepsy, juvenile myoclonic 5 and cacnb4-related juvenile myoclonic epilepsy, and has symptoms including generalized tonic-clonic seizures, absence seizures and generalized myoclonic seizures. 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 Interaction between L1 and Ankyrins. Affiliated tissues include brain, and related mouse phenotypes are hearing/vestibular/ear and reproductive system.

Disease Ontology:10 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:45 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

UniProtKB/Swiss-Prot:67 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.

OMIM:49 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically... (613060) more...

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 43)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, juvenile myoclonic 512.5
2cacnb4-related juvenile myoclonic epilepsy12.5
3clcn2-related juvenile myoclonic epilepsy12.5
4efhc1-related juvenile myoclonic epilepsy12.5
5ejm2-related juvenile myoclonic epilepsy12.5
6ejm3-related juvenile myoclonic epilepsy12.5
7ejm4-related juvenile myoclonic epilepsy12.5
8gabra1-related juvenile myoclonic epilepsy12.5
9gabrd-related juvenile myoclonic epilepsy12.5
10epilepsy, idiopathic generalized 911.5
11epilepsy, idiopathic generalized 1111.5
12gabrd-related generalized epilepsy with febrile seizures plus11.4
13myoclonic epilepsy, juvenile 111.3
14epilepsy, generalized, with febrile seizures plus, type 110.5
15gaba aminotransferase deficiency10.5CLCN2, EFHC1, GABRA1
16myopia 810.4CLCN2, GABRG2
17hypothalamic hamartomas with gelastic seizures10.4GABRG2, SCN1A
18leukoencephalopathy with ataxia10.4CLCN2, GABRG2
19spinocerebellar ataxia 610.4CACNB4, KCNA1
20partial sensory epilepsy10.4GABRG2, KCNQ3, SLC12A6
21childhood electroclinical syndrome10.4GABRG2, SCN1A, TBC1D24
22infancy electroclinical syndrome10.4KCNQ3, SCN1A, TBC1D24
23nonsyndromic deafness10.3GABRA1, SCN1A, TBC1D24
24floppy infant syndrome10.3CHRNA4, GABRD, GABRG2, SCN1A
25acinar cell cystadenocarcinoma10.3PAQR8, SCN1A, TBC1D24
26choroid plexus cancer10.3KCNQ3, TBC1D24
27malignant mixed mullerian tumor10.3SCN1A, TBC1D24
28cystic lymphangioma10.3CHRNA4, GABRG2, SCN1A, TBC1D24
29adolescence-adult electroclinical syndrome10.3CLCN2, GABRA1, GABRG2, KCNQ3, TBC1D24
30olivopontocerebellar atrophy10.3KCNQ3, TBC1D24
31copper deficiency, familial benign10.2CHRNA4, GABRG2, KCNA1, KCNQ3, SCN1A
32myopathy, proximal, with early respiratory muscle involvement10.2GABRA1, GABRD, GABRG2, SCN1A, TBC1D24
33juvenile absence epilepsy10.2GABRD, GABRG2, KCNQ3, SCN1A, TBC1D24
34prothrombin deficiency10.2CHRNA4, GABRD, GABRG2, SCN1A, TBC1D24
35epilepsy syndrome10.2CHRNA4, CLCN2, GABBR1, GABRA1, GABRG2, JRK
36atrial fibrillation, familial, 710.2CACNB4, KCNA1
37idiopathic generalized epilepsy10.2CHRNA4, GABRA1, GABRG2, KCNA1, KCNQ3, SCN1A
38adenocarcinoma10.1
39signet ring cell adenocarcinoma10.1
40myelinoclastic diffuse sclerosis10.1
41urethral stricture9.9CACNB4, CHRNA4, CLCN2, EFHC1, GABRA1, GABRD
42early onset absence epilepsy9.9CACNB4, CLCN2, EFHC1, GABRA1, GABRD, GABRG2
43epilepsy, generalized, with febrile seizures plus, type 58.6BRD2, CACNB4, CHRNA4, CLCN2, EFHC1, EJM2

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

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

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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 Epilepsy22 GABRD

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:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5CACNB4, GABRA1, GABRD, KCNA1, SLC12A6, TRAM2
2MP:00053899.4CACNB4, CLCN2, GABBR1, GABRA1, GABRD, GABRG2
3MP:00053867.9BRD2, CACNB4, CHRNA4, CLCN2, EFHC1, GABBR1
4MP:00036317.8BRD2, CACNB4, CHRNA4, CLCN2, EFHC1, GABBR1

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:

67
id Symbol AA change Variation ID SNP ID
1GABRDp.Glu177AlaVAR_043151

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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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
1presynaptic membraneGO:004273410.5GABBR1, KCNA1
2membraneGO:00160209.3GABBR1, GABRA1, GABRD, GABRG2, KCNA1, LRRC1

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

idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:005193210.7GABRA1, GABRG2
2neuronal action potential propagationGO:001922710.6CACNB4, SCN1A
3ion transportGO:00068119.4CHRNA4, GABRA1, GABRD, KCNA1, KCNQ3, SCN1A

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

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:000489010.2GABRA1, GABRD
2extracellular ligand-gated ion channel activityGO:000523010.2CHRNA4, GABRD

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet