EJM9
MCID: EPL186
MIFTS: 14

Epilepsy, Juvenile Myoclonic 9 (EJM9)

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

Aliases & Classifications for Epilepsy, Juvenile Myoclonic 9

MalaCards integrated aliases for Epilepsy, Juvenile Myoclonic 9:

Name: Epilepsy, Juvenile Myoclonic 9 57
Ejm9 57 12
Epilepsy, Juvenile Myoclonic, Susceptibility to, 9 57
Juvenile Myoclonic Epilepsy 9 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset between ages 12 and 20 years
seizures occur upon awakening
seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights
one indian family has been reported (as of october 2011)


HPO:

31
epilepsy, juvenile myoclonic 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111328
OMIM® 57 614280
OMIM Phenotypic Series 57 PS254770
MedGen 41 C3280332

Summaries for Epilepsy, Juvenile Myoclonic 9

Disease Ontology : 12 A juvenile myoclonic epilepsy that has material basis in heterozygous variation in a region on chromosome 2q33-q36.

MalaCards based summary : Epilepsy, Juvenile Myoclonic 9, is also known as ejm9. An important gene associated with Epilepsy, Juvenile Myoclonic 9 is EJM9 (Epilepsy, Juvenile Myoclonic, Susceptiblity To, 9). Related phenotypes are febrile seizure (within the age range of 3 months to 6 years) and generalized non-motor (absence) seizure

More information from OMIM: 614280 PS254770

Symptoms & Phenotypes for Epilepsy, Juvenile Myoclonic 9

Human phenotypes related to Epilepsy, Juvenile Myoclonic 9:

31
# Description HPO Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
2 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures, myoclonic
generalized tonic-clonic seizure
febrile seizures (in some)
absence seizures (in some)
photoparoxysmal response (in some)
more

Clinical features from OMIM®:

614280 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Juvenile Myoclonic 9

Search Clinical Trials , NIH Clinical Center for Epilepsy, Juvenile Myoclonic 9

Genetic Tests for Epilepsy, Juvenile Myoclonic 9

Anatomical Context for Epilepsy, Juvenile Myoclonic 9

Publications for Epilepsy, Juvenile Myoclonic 9

Articles related to Epilepsy, Juvenile Myoclonic 9:

# Title Authors PMID Year
1
A locus for juvenile myoclonic epilepsy maps to 2q33-q36. 57
20467754 2010

Variations for Epilepsy, Juvenile Myoclonic 9

Expression for Epilepsy, Juvenile Myoclonic 9

Search GEO for disease gene expression data for Epilepsy, Juvenile Myoclonic 9.

Pathways for Epilepsy, Juvenile Myoclonic 9

GO Terms for Epilepsy, Juvenile Myoclonic 9

Sources for Epilepsy, Juvenile Myoclonic 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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