MCID: EPL100
MIFTS: 47

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Epilepsy, Generalized, with Febrile Seizures Plus, Type 5:

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 52
Juvenile Myoclonic Epilepsy 11 48 24 25 54 27 13
Janz Syndrome 11 48 24 25
Petit Mal, Impulsive 48 24 25
Jme 48 24 54
Susceptibility to Idiopathic Generalized Epilepsy 10 70 27
Generalized Epilepsy with Febrile Seizures Plus 5 70 27
Susceptibility to Juvenile Myoclonic Epilepsy 7 70 27
Myoclonic Epilepsy, Juvenile 39 68
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 12
Generalized Epilepsy with Febrile Seizures Plus, Type 5 68
Epilepsy, Idiopathic Generalized, 10 52
Epilepsy, Idiopathic Generalized 10 70
 
Myoclonic Epilepsy, Juvenile, 1 48
Adolescent Myoclonic Epilepsy 25
Juvenile Myoclonic Epilepsy 7 70
Epilepsy, Juvenile Myoclonic 52
Myoclonic Epilepsy Juvenile 50
Juvenile Myoclonus Epilepsy 54
Gefs+ Type 5 70
Gefs+5 70
Gefsp5 70
Eig10 70
Ejm7 70
Ejm 48

Characteristics:

Orphanet epidemiological data:

54
juvenile myoclonic epilepsy:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy

HPO:

64
epilepsy, generalized, with febrile seizures plus, type 5:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 613060
Disease Ontology11 DOID:4890
NCIt45 C84796
Orphanet54 ORPHA307
SNOMED-CT62 6204001
MESH via Orphanet40 D020190
UMLS via Orphanet69 C0270853
ICD10 via Orphanet31 G40.3

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

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Genetics Home Reference:25 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 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: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.

UniProtKB/Swiss-Prot:70 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:52 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically... (613060) more...

NIH Rare Diseases:48 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

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 38)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic generalized epilepsy29.8CLCN2, EFHC1, GABBR1, GABRA1, GABRG2, GJA8
2epilepsy, juvenile myoclonic 512.0
3cacnb4-related juvenile myoclonic epilepsy12.0
4clcn2-related juvenile myoclonic epilepsy12.0
5efhc1-related juvenile myoclonic epilepsy12.0
6ejm2-related juvenile myoclonic epilepsy12.0
7ejm3-related juvenile myoclonic epilepsy12.0
8ejm4-related juvenile myoclonic epilepsy12.0
9gabra1-related juvenile myoclonic epilepsy12.0
10gabrd-related juvenile myoclonic epilepsy12.0
11myoclonic epilepsy, juvenile 111.9
12epilepsy, generalized, with febrile seizures plus, type 111.0
13epilepsy, idiopathic generalized 911.0
14epilepsy, idiopathic generalized 1111.0
15gabrd-related generalized epilepsy with febrile seizures plus10.9
16myopia 810.6CLCN2, GABRG2
17idiopathic hemiconvulsion-hemiplegia syndrome10.6GABRG2, SCN1A
18epilepsy10.6
19leukoencephalopathy with ataxia10.6CLCN2, GABRG2
20gamma-amino butyric acid metabolism disorder10.5CLCN2, EFHC1, GJA8
21cerebral ventricle cancer10.5EFHC1, KCNQ3, TBC1D24
22generalized gangliosidoses10.5GABRD, GABRG2, SCN1A
23childhood electroclinical syndrome10.5KCNQ3, SCN1A, TBC1D24
24adolescence-adult electroclinical syndrome10.5GABRG2, SCN1A, TBC1D24
25autosomal dominant nonsyndromic deafness10.5GABRA1, SCN1A, TBC1D24
26urethral obstruction sequence10.4SCN1A, TBC1D24
27blount's disease10.4KCNQ3, TBC1D24
28childhood malignant hemangiopericytoma10.4EFHC1, PAQR8, SCN1A, TBC1D24
29hypocalciuric hypercalcemia, type ii10.4CACNB4, KCNA1
30brachydactyly, type e10.3GABRA1, GABRD, GABRG2, SCN1A, TBC1D24
31granulomatous hepatitis10.3CHRNA4, GABRD, GABRG2, SCN1A, TBC1D24
32atrial fibrillation, familial, 710.2CACNB4, KCNA1
33gaba aminotransferase deficiency10.2GABRA1, GABRD, GABRG2, KCNQ3, SCN1A, TBC1D24
34early onset absence epilepsy10.2CLCN2, EFHC1, GABRA1, GABRG2, GJA8, TBC1D24
35mononeuritis multiplex10.0CACNB4, CLCN2, EFHC1, GABRA1, GABRD, GABRG2
36childhood absence epilepsy10.0
37urethral stricture9.9CACNB4, CHRNA4, CLCN2, EFHC1, GABRA1, GABRD
38epilepsy, juvenile absence 19.5BRD2, CHRNA4, EFHC1, GABBR1, GABRA1, GABRG2

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 & Phenotypes 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

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

 64
id Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures64 HP:0002069
2 absence seizures64 HP:0002121
3 generalized myoclonic seizures64 HP:0002123
4 febrile seizures64 HP:0002373
5 focal seizures64 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

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.3CACNB4, GABRA1, GABRD, KCNA1, SLC12A6, TRAM2
2MP:00053899.3CACNB4, CLCN2, GABBR1, GABRA1, GABRD, GABRG2
3MP:00036319.0BRD2, CACNB4, CHRNA4, CLCN2, EFHC1, GABBR1
4MP:00053868.8BRD2, CACNB4, CHRNA4, CLCN2, EFHC1, GABBR1

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 EpilepsyUnknown statusNCT01450423Phase 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 Epilepsy27 24 GABRD
2 Epilepsy, Idiopathic Generalized 1027
3 Epilepsy, Juvenile Myoclonic 727
4 Generalized Epilepsy with Febrile Seizures Plus Type 527

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:

36
Brain

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:

70
id Symbol AA change Variation ID SNP ID
1GABRDp.Glu177AlaVAR_043151rs121434580

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CACNB4NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe)SNVPathogenic, risk factorrs1805031GRCh37Chr 2, 152737393: 152737393

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
1axon initial segmentGO:004319411.0KCNQ3, SCN1A
2node of RanvierGO:003326810.9KCNQ3, SCN1A
3GABA-A receptor complexGO:190271110.9GABRA1, GABRD, GABRG2
4chloride channel complexGO:003470710.7CLCN2, GABRA1, GABRD, GABRG2
5neuronal cell bodyGO:004302510.4CHRNA4, EFHC1, GABBR1, KCNA1, SCN1A
6cell junctionGO:003005410.4CHRNA4, GABBR1, GABRA1, GABRD, GABRG2, KCNA1
7postsynaptic membraneGO:004521110.2CHRNA4, GABBR1, GABRA1, GABRD, GABRG2
8presynaptic membraneGO:00427349.9GABBR1, GRM4, KCNA1
9integral component of plasma membraneGO:00058879.7CLCN2, GABBR1, GABRA1, GABRD, GABRG2, GJA8
10plasma membraneGO:00058868.9CACNB4, 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 12)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarizationGO:005189911.0CACNB4, CHRNA4
2cellular response to histamineGO:007142011.0GABRA1, GABRG2
3synaptic transmission, GABAergicGO:005193210.9GABRA1, GABRG2
4neuronal action potential propagationGO:001922710.9CACNB4, SCN1A
5neuronal action potentialGO:001922810.9KCNA1, SCN1A
6potassium ion transmembrane transportGO:007180510.7KCNA1, KCNQ3, SLC12A6
7regulation of ion transmembrane transportGO:003476510.7KCNA1, KCNQ3, SCN1A
8regulation of membrane potentialGO:004239110.7CHRNA4, KCNA1, SCN1A
9gamma-aminobutyric acid signaling pathwayGO:000721410.6CACNB4, GABBR1, GABRA1, GABRG2
10chloride transmembrane transportGO:190247610.5CLCN2, GABRA1, GABRD, GABRG2, SLC12A6
11chemical synaptic transmissionGO:000726810.0CACNB4, CHRNA4, GABRD, GABRG2, GRM4, KCNA1
12transportGO:00068109.6CACNB4, CLCN2, GABRA1, GABRD, GABRG2, GJA8

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:000525410.6GABRA1, GABRD, GABRG2
2extracellular ligand-gated ion channel activityGO:000523010.4GABRA1, GABRD, GABRG2
3GABA-A receptor activityGO:000489010.1GABRA1, GABRD, GABRG2

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet