EJM9
MCID: EPL186
MIFTS: 16

Epilepsy, Juvenile Myoclonic 9 (EJM9)

Categories: Genetic diseases, Metabolic 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 58
Epilepsy, Juvenile Myoclonic, Susceptibility to, 9 58
Ejm9 58

Characteristics:

OMIM:

58
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:

33
epilepsy, juvenile myoclonic 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614280
MedGen 43 C3280332

Summaries for Epilepsy, Juvenile Myoclonic 9

MalaCards based summary : Epilepsy, Juvenile Myoclonic 9, also known as epilepsy, juvenile myoclonic, susceptibility to, 9, is related to epilepsy, myoclonic juvenile. An important gene associated with Epilepsy, Juvenile Myoclonic 9 is EJM9 (Epilepsy, Juvenile Myoclonic, Susceptiblity To, 9). Related phenotypes are absence seizure and febrile seizures

Description from OMIM: 614280

Related Diseases for Epilepsy, Juvenile Myoclonic 9

Symptoms & Phenotypes for Epilepsy, Juvenile Myoclonic 9

Human phenotypes related to Epilepsy, Juvenile Myoclonic 9:

33
# Description HPO Frequency HPO Source Accession
1 absence seizure 33 occasional (7.5%) HP:0002121
2 febrile seizures 33 occasional (7.5%) HP:0002373

Symptoms via clinical synopsis from OMIM:

58
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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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