MCID: EPL186
MIFTS: 17

Epilepsy, Juvenile Myoclonic 9

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

Aliases & Classifications for Epilepsy, Juvenile Myoclonic 9

MalaCards integrated aliases for Epilepsy, Juvenile Myoclonic 9:

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

Characteristics:

OMIM:

57
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:

32
epilepsy, juvenile myoclonic 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614280
MedGen 42 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 seizures and febrile seizures

Description from OMIM: 614280

Related Diseases for Epilepsy, Juvenile Myoclonic 9

Symptoms & Phenotypes for Epilepsy, Juvenile Myoclonic 9

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epilepsy, Juvenile Myoclonic 9:

32
# Description HPO Frequency HPO Source Accession
1 absence seizures 32 occasional (7.5%) HP:0002121
2 febrile seizures 32 occasional (7.5%) HP:0002373

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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