MCID: EPL100
MIFTS: 49

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

Genetic diseases, Rare diseases, Neuronal diseases categories

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

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 29ICD9CM, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
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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
Petit Mal, Impulsive 45 22 23
Jme 45 22 51
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 11 24
Epilepsy, Idiopathic Generalized, 10 49 24
Myoclonic Epilepsy, Juvenile 65 36
Myoclonic Epilepsy Juvenile 47 24
Susceptibility to Idiopathic Generalized Epilepsy 10 67
Generalized Epilepsy with Febrile Seizures Plus 5 67
Susceptibility to Juvenile Myoclonic Epilepsy 7 67
 
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
Gefs+ Type 5 67
Gefsp5 67
Gefs+5 67
Eig10 67
Ejm7 67
Ejm 45


Classifications:



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


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OMIM49 613060
Disease Ontology10 DOID:4890
NCIt42 C84796
ICD9CM29 345.1
SNOMED-CT59 6204001
Orphanet51 307
UMLS via Orphanet66 C0270853
ICD10 via Orphanet28 G40.3
MESH via Orphanet37 D020190

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, idiopathic generalized 11 and status epilepticus, 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 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, 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:49 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically... (613060) more...

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.

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 top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, idiopathic generalized 1130.7CLCN2, GABRG2
2status epilepticus10.6
3myoclonic epilepsy, juvenile 110.6
4epilepsy, juvenile myoclonic 510.5
5temporal lobe epilepsy10.5
6epilepsy syndrome10.5
7focal epilepsy10.5
8cacnb4-related juvenile myoclonic epilepsy10.5
9clcn2-related juvenile myoclonic epilepsy10.5
10efhc1-related juvenile myoclonic epilepsy10.5
11ejm2-related juvenile myoclonic epilepsy10.5
12ejm3-related juvenile myoclonic epilepsy10.5
13ejm4-related juvenile myoclonic epilepsy10.5
14gabra1-related juvenile myoclonic epilepsy10.5
15gabrd-related juvenile myoclonic epilepsy10.5
16childhood absence epilepsy10.4
17cerebritis10.4
18autosomal recessive disease10.4
19personality disorder10.4
20headache10.4
21generalized epilepsy with febrile seizures plus10.3CLCN2, EFHC1, GABRA1
22leukoencephalopathy with ataxia10.3CLCN2, GABRG2
23hypothalamic hamartomas with gelastic seizures10.3GABRG2, SCN1A
24collecting duct carcinoma10.3CHRNA4, KCNA1, KCNQ3
25epilepsy, idiopathic generalized 910.2
26anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
27coronary heart disease 510.2
28photoparoxysmal response 110.2
29coronary heart disease 610.2
30velocardiofacial syndrome10.2
31west syndrome10.2
32insulinoma10.2
33graves' disease10.2
34neuronitis10.2
35early myoclonic encephalopathy10.2
36frontal lobe epilepsy10.2
37benign epilepsy with centrotemporal spikes10.2
38blood protein disease10.2
39bone structure disease10.2
40central nervous system disease10.2
41cranial nerve palsy10.2
42disease of mental health10.2
43idiopathic generalized epilepsy10.2
44learning disability10.2
45nervous system disease10.2
46physical disorder10.2
47prion disease10.2
48neurologic diseases10.2
49myoclonus epilepsy10.2
50febrile seizures10.2

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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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 Epilepsy22 24 GABRD
2 Epilepsy, Idiopathic Generalized 1024
3 Generalized Epilepsy with Febrile Seizures Plus Type 524

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:00053779.7CACNB4, GABRA1, GABRD, KCNA1, SLC12A6, TRAM2
2MP:00053899.2CACNB4, CLCN2, GABBR1, GABRA1, GABRD, GABRG2
3MP:00053868.0BRD2, 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

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GABRA1NC_000005.10insertionrisk factorrs587777363NCBI36Chr 5, 161897090: 161897091
2GABRA1NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn)single nucleotide variantrisk factorrs587777364GRCh38Chr 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
5CLCN2NM_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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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:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor complexGO:190271110.8GABRA1, GABRD, GABRG2
2axon initial segmentGO:004319410.8KCNQ3, SCN1A
3node of RanvierGO:003326810.7KCNQ3, SCN1A
4chloride channel complexGO:003470710.5CLCN2, GABRA1, GABRD, GABRG2
5presynaptic membraneGO:004273410.5GABBR1, GRM4, KCNA1
6dendriteGO:003042510.3CHRNA4, GABBR1, KCNA1, KCNQ3
7neuron projectionGO:004300510.1CHRNA4, GABRA1, GABRD, GABRG2, KCNQ3
8neuronal cell bodyGO:004302510.0CHRNA4, EFHC1, KCNA1, KCNQ3, SCN1A
9postsynaptic membraneGO:00452119.7CHRNA4, GABBR1, GABRA1, GABRD, GABRG2
10integral component of plasma membraneGO:00058879.6GABBR1, GABRA1, GABRD, GABRG2, GRM4, KCNA1
11cell junctionGO:00300549.4CHRNA4, GABBR1, GABRA1, GABRD, GABRG2, KCNA1
12synapseGO:00452029.3CACNB4, CHRNA4, GABRA1, GABRD, GABRG2, KCNA1
13membraneGO:00160208.6CHRNA4, CLCN2, GABBR1, GABRA1, GABRD, GABRG2
14plasma membraneGO:00058868.4CACNB4, CHRNA4, CLCN2, GABBR1, GABRA1, GABRG2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1action potentialGO:000150810.7CHRNA4, SCN1A
2synaptic transmission, GABAergicGO:005193210.6GABRA1, GABRG2
3membrane depolarizationGO:005189910.6CACNB4, CHRNA4
4potassium ion transmembrane transportGO:007180510.5KCNA1, KCNQ3, SLC12A6
5gamma-aminobutyric acid signaling pathwayGO:000721410.5CACNB4, GABBR1, GABRA1, GABRG2
6regulation of ion transmembrane transportGO:003476510.4KCNA1, KCNQ3, SCN1A
7cellular response to histamineGO:007142010.3GABRA1, GABRG2
8neuronal action potential propagationGO:001922710.1CACNB4, SCN1A
9neurological system processGO:005087710.1CACNB4, CHRNA4, GABRA1, GABRD, GABRG2
10ion transmembrane transportGO:003422010.1CHRNA4, CLCN2, GABRA1, GABRG2, KCNQ3
11chloride transmembrane transportGO:190247610.1CLCN2, GABRA1, GABRD, GABRG2, SLC12A6
12transportGO:00068109.5CACNB4, CHRNA4, CLCN2, GABRA1, GABRD, GABRG2
13transmembrane transportGO:00550859.5CLCN2, GABRA1, GABRG2, KCNA1, KCNQ3, SCN1A
14ion transportGO:00068119.4CHRNA4, GABRA1, GABRD, GABRG2, KCNA1, KCNQ3
15regulation of membrane potentialGO:00423919.4CACNB4, CHRNA4, GABRA1, GABRD, GABRG2, KCNA1
16synaptic transmissionGO:00072688.7CACNB4, CHRNA4, GABBR1, GABRA1, GABRD, GABRG2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1inhibitory extracellular ligand-gated ion channel activityGO:000523710.6GABRA1, GABRG2
2benzodiazepine receptor activityGO:000850310.6GABRA1, GABRG2
3potassium ion transmembrane transporter activityGO:001507910.6KCNA1, SLC12A6
4GABA-A receptor activityGO:000489010.5GABRA1, GABRD, GABRG2
5extracellular ligand-gated ion channel activityGO:000523010.1CHRNA4, GABRA1, GABRD, GABRG2
6chloride channel activityGO:00052549.8GABRA1, GABRD, GABRG2
7ion channel activityGO:00052169.6CHRNA4, CLCN2, KCNA1, KCNQ3, SCN1A

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