MCID: EPL217
MIFTS: 14

Epilepsy, Juvenile Myoclonic 10

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

Aliases & Classifications for Epilepsy, Juvenile Myoclonic 10

MalaCards integrated aliases for Epilepsy, Juvenile Myoclonic 10:

Name: Epilepsy, Juvenile Myoclonic 10 57
Epilepsy, Juvenile Myoclonic, Susceptibility to, 10 57 6
Ejm10 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
highly variable phenotype
variable age at onset


Classifications:



External Ids:

OMIM 57 617924

Summaries for Epilepsy, Juvenile Myoclonic 10

OMIM : 57 Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by Bailey et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see 254770. (617924)

MalaCards based summary : Epilepsy, Juvenile Myoclonic 10, is also known as epilepsy, juvenile myoclonic, susceptibility to, 10. An important gene associated with Epilepsy, Juvenile Myoclonic 10 is ICK (Intestinal Cell Kinase).

Symptoms & Phenotypes for Epilepsy, Juvenile Myoclonic 10

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, variable types
myoclonic seizures
tonic-clonic seizures
febrile seizures
absence seizures
more

Clinical features from OMIM:

617924

Drugs & Therapeutics for Epilepsy, Juvenile Myoclonic 10

Search Clinical Trials , NIH Clinical Center for Epilepsy, Juvenile Myoclonic 10

Genetic Tests for Epilepsy, Juvenile Myoclonic 10

Anatomical Context for Epilepsy, Juvenile Myoclonic 10

Publications for Epilepsy, Juvenile Myoclonic 10

Variations for Epilepsy, Juvenile Myoclonic 10

ClinVar genetic disease variations for Epilepsy, Juvenile Myoclonic 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ICK NM_016513.4(ICK): c.914A> C (p.Lys305Thr) single nucleotide variant risk factor rs765078446 GRCh37 Chromosome 6, 52878698: 52878698
2 ICK NM_016513.4(ICK): c.914A> C (p.Lys305Thr) single nucleotide variant risk factor rs765078446 GRCh38 Chromosome 6, 53013900: 53013900
3 ICK NM_016513.4(ICK): c.658A> G (p.Lys220Glu) single nucleotide variant risk factor GRCh37 Chromosome 6, 52883133: 52883133
4 ICK NM_016513.4(ICK): c.658A> G (p.Lys220Glu) single nucleotide variant risk factor GRCh38 Chromosome 6, 53018335: 53018335
5 ICK NM_016513.4(ICK): c.1843G> A (p.Ala615Thr) single nucleotide variant risk factor rs55932059 GRCh37 Chromosome 6, 52870003: 52870003
6 ICK NM_016513.4(ICK): c.1843G> A (p.Ala615Thr) single nucleotide variant risk factor rs55932059 GRCh38 Chromosome 6, 53005205: 53005205
7 ICK NM_016513.4(ICK): c.1894C> T (p.Arg632Ter) single nucleotide variant risk factor rs376111440 GRCh37 Chromosome 6, 52869952: 52869952
8 ICK NM_016513.4(ICK): c.1894C> T (p.Arg632Ter) single nucleotide variant risk factor rs376111440 GRCh38 Chromosome 6, 53005154: 53005154

Expression for Epilepsy, Juvenile Myoclonic 10

Search GEO for disease gene expression data for Epilepsy, Juvenile Myoclonic 10.

Pathways for Epilepsy, Juvenile Myoclonic 10

GO Terms for Epilepsy, Juvenile Myoclonic 10

Sources for Epilepsy, Juvenile Myoclonic 10

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
Content
Loading form....