EIG10
MCID: EPL100
MIFTS: 47

Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 (EIG10) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

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

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

Name: Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 54
Juvenile Myoclonic Epilepsy 12 50 24 25 56 29 14
Janz Syndrome 12 50 24 25
Petit Mal, Impulsive 50 24 25
Jme 50 24 56
Susceptibility to Idiopathic Generalized Epilepsy 10 66 29
Generalized Epilepsy with Febrile Seizures Plus 5 66 29
Susceptibility to Juvenile Myoclonic Epilepsy 7 66 29
Myoclonic Epilepsy, Juvenile 42 69
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 13
Generalized Epilepsy with Febrile Seizures Plus, Type 5 69
Epilepsy, Idiopathic Generalized, 10 54
Epilepsy, Idiopathic Generalized 10 66
Myoclonic Epilepsy, Juvenile, 1 50
Adolescent Myoclonic Epilepsy 25
Juvenile Myoclonic Epilepsy 7 66
Epilepsy, Juvenile Myoclonic 54
Juvenile Myoclonus Epilepsy 56
Myoclonic Epilepsy Juvenile 52
Gefs+ Type 5 66
Gefsp5 66
Gefs+5 66
Eig10 66
Ejm7 66
Ejm 50

Characteristics:

Orphanet epidemiological data:

56
juvenile myoclonic epilepsy
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy;

HPO:

32
epilepsy, generalized, with febrile seizures plus, type 5:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 613060
Disease Ontology 12 DOID:4890
NCIt 47 C84796
SNOMED-CT 64 6204001
Orphanet 56 ORPHA307
MESH via Orphanet 43 D020190
UMLS via Orphanet 70 C0270853
ICD10 via Orphanet 34 G40.3
UMLS 69 C0270853

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

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 ejm2-related juvenile myoclonic epilepsy and ejm3-related juvenile myoclonic epilepsy, and has symptoms including generalized myoclonic seizures, 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 Type A Receptor Delta Subunit), and among its related pathways/superpathways are Transmission across Chemical Synapses and GABAergic synapse. Affiliated tissues include brain, and related phenotypes are behavior/neurological and nervous system

Disease Ontology : 12 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 : 50 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 : 54 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically... (613060) more...

UniProtKB/Swiss-Prot : 66 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

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 44)
id Related Disease Score Top Affiliating Genes
1 ejm2-related juvenile myoclonic epilepsy 12.0
2 ejm3-related juvenile myoclonic epilepsy 12.0
3 ejm4-related juvenile myoclonic epilepsy 12.0
4 gabra1-related juvenile myoclonic epilepsy 12.0
5 gabrd-related juvenile myoclonic epilepsy 12.0
6 epilepsy, juvenile myoclonic 5 12.0
7 cacnb4-related juvenile myoclonic epilepsy 12.0
8 clcn2-related juvenile myoclonic epilepsy 12.0
9 efhc1-related juvenile myoclonic epilepsy 12.0
10 epilepsy, generalized, with febrile seizures plus, type 1 11.0
11 epilepsy, idiopathic generalized 9 11.0
12 epilepsy, idiopathic generalized 11 11.0
13 gabrd-related generalized epilepsy with febrile seizures plus 10.9
14 myoclonic epilepsy, juvenile 1 10.8
15 epilepsy 10.6
16 autoimmune thyroid disease 1 10.3 CACNB4 EFHC1
17 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.3 GABRG2 SCN1A
18 osteitis fibrosa 10.3 GABRG2 KCNQ3 SLC12A6
19 mental retardation, autosomal recessive 38 10.3 CLCN2 SLC12A6 TBC1D24
20 atypical choroid plexus papilloma 10.2 EFHC1 KCNQ3 TBC1D24
21 familial hemiplegic migraine 10.2 CLCN2 EFHC1 GABRA1 GJA8
22 early onset absence epilepsy 10.2 GABRG2 SCN1A TBC1D24
23 marek disease 10.2 SCN1A TBC1D24
24 adolescence-adult electroclinical syndrome 10.2 KCNQ3 SCN1A TBC1D24
25 hydromyelia 10.2 CHRNA4 GABRD GABRG2 SCN1A
26 wagro syndrome 10.2 GABRG2 KCNQ3 SLC12A6 TBC1D24
27 neuroblastoma 6 10.2 GABRG2 GJA8
28 autosomal recessive nonsyndromic deafness 10.2 GABRA1 GABRG2 SCN1A TBC1D24
29 adult brain ependymoma 10.2 EFHC1 PAQR8 SCN1A TBC1D24
30 hypocalciuric hypercalcemia, type ii 10.2 CACNB4 KCNA1
31 epileptic encephalopathy, early infantile, 11 10.2 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
32 deafness, autosomal recessive 65 10.2 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
33 brachydactyly, type e 10.2 GABRA1 GABRD GABRG2 SCN1A TBC1D24
34 spondylosis 10.2 CHRNA4 GABRD GABRG2 SCN1A TBC1D24
35 gamma-amino butyric acid metabolism disorder 10.1 GABRA1 GABRD GABRG2 KCNQ3 SCN1A TBC1D24
36 urethral stricture 10.1 CHRNA4 CLCN2 GABBR1 GABRA1 GABRG2 JRK
37 retinal cone dystrophy 3 10.1 CACNB4 KCNA1
38 3-methylcrotonyl-coa carboxylase deficiency 10.1 CLCN2 EFHC1 GABRA1 GABRG2 GJA8 TBC1D24
39 bone cancer 10.0 CACNB4 CHRNA4 CLCN2 EFHC1 GABRA1 GABRD
40 childhood absence epilepsy 10.0
41 mononeuritis multiplex 9.9 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1
42 aceruloplasminemia 9.8 CACNB4 CLCN2 EFHC1 GABRA1 GABRD GABRG2
43 idiopathic generalized epilepsy 9.8
44 focal epilepsy 9.8

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

Symptoms by clinical synopsis from OMIM:

613060

Clinical features from OMIM:

613060

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

32
id Description HPO Frequency HPO Source Accession
1 generalized myoclonic seizures 32 HP:0002123
2 generalized tonic-clonic seizures 32 HP:0002069
3 absence seizures 32 HP:0002121
4 febrile seizures 32 HP:0002373
5 focal seizures 32 HP:0007359

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


myoclonus

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 TRAM2 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1
2 nervous system MP:0003631 9.8 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1
3 hearing/vestibular/ear MP:0005377 9.63 CACNB4 GABRA1 GABRD KCNA1 SLC12A6 TRAM2
4 reproductive system MP:0005389 9.23 SLC12A6 CACNB4 CLCN2 GABBR1 GABRA1 GABRD

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 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

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

id Genetic test Affiliating Genes
1 Juvenile Myoclonic Epilepsy 29 24 GABRD
2 Epilepsy, Idiopathic Generalized 10 29
3 Epilepsy, Juvenile Myoclonic 7 29
4 Generalized Epilepsy with Febrile Seizures Plus Type 5 29

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

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

39
Brain

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 GABRD p.Glu177Ala VAR_043151 rs121434580

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic,risk factor rs137852777 GRCh37 Chromosome 6, 52317540: 52317540
2 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
3 GABRD NM_000815.4(GABRD): c.659G> A (p.Arg220His) single nucleotide variant risk factor rs41307846 GRCh37 Chromosome 1, 1959699: 1959699

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

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

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

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

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.85 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 KCNA1
2 dendrite GO:0030425 9.83 CHRNA4 GABBR1 GABRG2 KCNA1
3 neuronal cell body GO:0043025 9.81 CHRNA4 EFHC1 KCNA1 SCN1A
4 postsynaptic membrane GO:0045211 9.72 CHRNA4 GABBR1 GABRA1 GABRD GABRG2
5 presynaptic membrane GO:0042734 9.63 GABBR1 GRM4 KCNA1
6 cell junction GO:0030054 9.56 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 GJA8
7 node of Ranvier GO:0033268 9.49 KCNQ3 SCN1A
8 axon initial segment GO:0043194 9.48 KCNQ3 SCN1A
9 GABA-A receptor complex GO:1902711 9.43 GABRA1 GABRD GABRG2
10 chloride channel complex GO:0034707 8.92 CLCN2 GABRA1 GABRD GABRG2
11 integral component of membrane GO:0016021 10.28 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD GABRG2
12 plasma membrane GO:0005886 10.03 CACNB4 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD
13 integral component of plasma membrane GO:0005887 10.01 GABBR1 GABRA1 GABRD GABRG2 GJA8 GRM4

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 CLCN2 GJA8 KCNA1 KCNQ3 SCN1A SLC12A6
2 transport GO:0006810 9.93 CACNB4 CHRNA4 CLCN2 GABRA1 GABRD GABRG2
3 ion transmembrane transport GO:0034220 9.8 CHRNA4 CLCN2 GABRA1 GABRD GABRG2 SCN1A
4 regulation of ion transmembrane transport GO:0034765 9.77 CACNB4 CLCN2 KCNA1 KCNQ3 SCN1A
5 potassium ion transport GO:0006813 9.74 KCNA1 KCNQ3 SLC12A6
6 potassium ion transmembrane transport GO:0071805 9.73 KCNA1 KCNQ3 SLC12A6
7 regulation of membrane potential GO:0042391 9.71 CHRNA4 KCNA1 SCN1A
8 chloride transport GO:0006821 9.71 CLCN2 GABRA1 GABRD GABRG2
9 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA4 GABRA1 SCN1A
10 chloride transmembrane transport GO:1902476 9.65 CLCN2 GABRA1 GABRD GABRG2 SLC12A6
11 ion transport GO:0006811 9.65 CACNB4 CHRNA4 CLCN2 GABRA1 GABRD GABRG2
12 gamma-aminobutyric acid signaling pathway GO:0007214 9.61 GABBR1 GABRA1 GABRG2
13 neuronal action potential GO:0019228 9.58 KCNA1 SCN1A
14 membrane depolarization GO:0051899 9.55 CACNB4 CHRNA4
15 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.52 KCNA1 SCN1A
16 cellular response to histamine GO:0071420 9.51 GABRA1 GABRG2
17 synaptic transmission, GABAergic GO:0051932 9.49 GABRA1 GABRG2
18 chemical synaptic transmission GO:0007268 9.23 CACNB4 CHRNA4 GABRD GABRG2 GRM4 KCNA1

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.62 CLCN2 KCNA1 KCNQ3 SCN1A
2 ion channel activity GO:0005216 9.56 CHRNA4 GABRA1 KCNA1 SCN1A
3 GABA-A receptor activity GO:0004890 9.33 GABRA1 GABRD GABRG2
4 chloride channel activity GO:0005254 9.26 CLCN2 GABRA1 GABRD GABRG2
5 extracellular ligand-gated ion channel activity GO:0005230 8.92 CHRNA4 GABRA1 GABRD GABRG2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....