MCID: MYC070
MIFTS: 35

Myoclonic Epilepsy, Juvenile 1 malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Myoclonic Epilepsy, Juvenile 1

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Aliases & Descriptions for Myoclonic Epilepsy, Juvenile 1:

Name: Myoclonic Epilepsy, Juvenile 1 50
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 12
Susceptibility to Juvenile Myoclonic Epilepsy 1 68
Juvenile Myoclonic Epilepsy 1 68
 
Petit Mal Impulsive 68
Janz Syndrome 68
Ejm1 68
Jme 68

Characteristics:

HPO:

62
myoclonic epilepsy, juvenile 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 254770
MeSH37 D020190

Summaries for Myoclonic Epilepsy, Juvenile 1

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OMIM:50 Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of... (254770) more...

MalaCards based summary: Myoclonic Epilepsy, Juvenile 1, also known as myoclonic epilepsy, juvenile, susceptibility to, 1, is related to epilepsy, generalized, with febrile seizures plus, type 5 and childhood malignant hemangiopericytoma, and has symptoms including generalized tonic-clonic seizures, absence seizures and status epilepticus. An important gene associated with Myoclonic Epilepsy, Juvenile 1 is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways are Ligand-gated ion channel transport and Benzodiazepine Pathway, Pharmacodynamics. Related mouse phenotypes are growth/size/body region and behavior/neurological.

UniProtKB/Swiss-Prot:68 Juvenile myoclonic epilepsy 1: 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 Myoclonic Epilepsy, Juvenile 1

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Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Myoclonic, Familial Adult, 5 Epilepsy, Myoclonic, Familial Adult, 2
Epilepsy, Progressive Myoclonic 5 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b myoclonic epilepsy, juvenile 1
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic, 9 Epilepsy, Progressive Myoclonic, 8
Epilepsy, Progressive Myoclonic 1a Epilepsy Progressive Myoclonic Type 3
Cacnb4-Related Juvenile Myoclonic Epilepsy Clcn2-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Gabra1-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Scn1a-Related Severe Myoclonic Epilepsy in Infancy Benign Adult Familial Myoclonic Epilepsy
Epilepsy, Progressive Myoclonic 10

Diseases related to Myoclonic Epilepsy, Juvenile 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, generalized, with febrile seizures plus, type 528.7BRD2, CHRNA4, EFHC1, GABRA1, GABRG2, GRM4
2childhood malignant hemangiopericytoma10.1EFHC1, SCN1A
3idiopathic hemiconvulsion-hemiplegia syndrome10.1GABRG2, SCN1A
4early onset absence epilepsy10.1EFHC1, GABRA1, GABRG2
5frontal lobe epilepsy10.1GABRG2, SLC12A6
6adolescence-adult electroclinical syndrome10.0GABRG2, SCN1A
7epilepsy10.0
8gaba aminotransferase deficiency9.9GABRA1, GABRG2, SCN1A
9generalized gangliosidoses9.9GABRG2, SCN1A
10granulomatous hepatitis9.8CHRNA4, GABRG2, SCN1A
11brachydactyly, type e9.8GABRA1, GABRG2, SCN1A
12autosomal dominant nonsyndromic deafness9.7GABRA1, SCN1A
13ohtahara syndrome9.6EFHC1, GABRA1, GABRG2, SCN1A
14mononeuritis multiplex9.6EFHC1, GABRA1, GABRG2, SCN1A
15idiopathic generalized epilepsy9.5EFHC1, GABBR1, GABRA1, GABRG2
16urethral stricture9.3CHRNA4, EFHC1, GABRA1, GABRG2, SCN1A
17schizophrenia9.0CHRNA4, GABBR1, GABRG2, GRM4
18epilepsy, juvenile absence 16.6BRD2, CHRNA4, EFHC1, GABBR1, GABRA1, GABRG2

Graphical network of diseases related to Myoclonic Epilepsy, Juvenile 1:



Diseases related to myoclonic epilepsy, juvenile 1

Symptoms for Myoclonic Epilepsy, Juvenile 1

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Symptoms by clinical synopsis from OMIM:

254770

Clinical features from OMIM:

254770

HPO human phenotypes related to Myoclonic Epilepsy, Juvenile 1:

id Description Frequency HPO Source Accession
1 generalized tonic-clonic seizures HP:0002069
2 absence seizures HP:0002121
3 status epilepticus HP:0002133
4 morning myoclonic jerks HP:0007000
5 eeg with generalized polyspikes HP:0012001

Drugs & Therapeutics for Myoclonic Epilepsy, Juvenile 1

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Interventional clinical trials:

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

Search NIH Clinical Center for Myoclonic Epilepsy, Juvenile 1

Genetic Tests for Myoclonic Epilepsy, Juvenile 1

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Anatomical Context for Myoclonic Epilepsy, Juvenile 1

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Animal Models for Myoclonic Epilepsy, Juvenile 1 or affiliated genes

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MGI Mouse Phenotypes related to Myoclonic Epilepsy, Juvenile 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053786.6BRD2, GABBR1, GABRA1, GABRG2, KCNA1, SCN1A
2MP:00053865.8BRD2, CHRNA4, EFHC1, GABBR1, GABRA1, GABRG2
3MP:00036315.7BRD2, CHRNA4, EFHC1, GABBR1, GABRA1, GABRG2

Publications for Myoclonic Epilepsy, Juvenile 1

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Variations for Myoclonic Epilepsy, Juvenile 1

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UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy, Juvenile 1:

68
id Symbol AA change Variation ID SNP ID
1EFHC1p.Pro77ThrVAR_023619rs149055334
2EFHC1p.Asp210AsnVAR_023622rs137852777
3EFHC1p.Arg221HisVAR_023623rs79761183
4EFHC1p.Asp253TyrVAR_023625rs137852778
5EFHC1p.Arg353TrpVAR_043157rs527295360
6EFHC1p.Arg118CysVAR_072108rs764096785

Expression for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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Search GEO for disease gene expression data for Myoclonic Epilepsy, Juvenile 1.

Pathways for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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GO Terms for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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Cellular components related to Myoclonic Epilepsy, Juvenile 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor complexGO:190271110.6GABRA1, GABRG2
2chloride channel complexGO:003470710.4GABRA1, GABRG2
3presynaptic membraneGO:00427349.4GABBR1, GRM4, KCNA1
4axonGO:00304249.3GABRG2, KCNA1, SCN1A
5postsynaptic membraneGO:00452119.2CHRNA4, GABBR1, GABRA1, GABRG2
6cell junctionGO:00300548.6CHRNA4, GABBR1, GABRA1, GABRG2, KCNA1
7neuronal cell bodyGO:00430258.2CHRNA4, EFHC1, GABBR1, KCNA1, SCN1A
8integral component of plasma membraneGO:00058877.8GABBR1, GABRA1, GABRG2, GRM4, KCNA1, SLC12A6
9plasma membraneGO:00058866.6CHRNA4, GABBR1, GABRA1, GABRG2, GRM4, KCNA1

Biological processes related to Myoclonic Epilepsy, Juvenile 1 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular response to histamineGO:007142010.0GABRA1, GABRG2
2synaptic transmission, GABAergicGO:005193210.0GABRA1, GABRG2
3chloride transmembrane transportGO:19024769.8GABRA1, GABRG2, SLC12A6
4gamma-aminobutyric acid signaling pathwayGO:00072149.7GABBR1, GABRA1, GABRG2
5neuronal action potentialGO:00192289.5KCNA1, SCN1A
6regulation of membrane potentialGO:00423919.3CHRNA4, KCNA1, SCN1A
7response to nicotineGO:00350949.2CHRNA4, GABBR1
8chemical synaptic transmissionGO:00072688.4CHRNA4, GABRG2, GRM4, KCNA1, SLC12A6

Molecular functions related to Myoclonic Epilepsy, Juvenile 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:000489010.2GABRA1, GABRG2
2extracellular ligand-gated ion channel activityGO:000523010.1GABRA1, GABRG2
3chloride channel activityGO:00052549.8GABRA1, GABRG2

Sources for Myoclonic Epilepsy, Juvenile 1

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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