EJM10
MCID: EPL217
MIFTS: 18

Epilepsy, Juvenile Myoclonic 10 (EJM10)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 29 6
Ejm10 57 75
Juvenile Myoclonic Epilepsy 10 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
variable age at onset


HPO:

32
epilepsy, juvenile myoclonic 10:
Onset and clinical course incomplete penetrance


Classifications:



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). Related phenotypes are generalized myoclonic seizures and absence seizures

UniProtKB/Swiss-Prot : 75 Juvenile myoclonic epilepsy 10: A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 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. Some patients have onset of seizures in the first years of life.

Symptoms & Phenotypes for Epilepsy, Juvenile Myoclonic 10

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

617924

Human phenotypes related to Epilepsy, Juvenile Myoclonic 10:

32
# Description HPO Frequency HPO Source Accession
1 generalized myoclonic seizures 32 HP:0002123
2 absence seizures 32 HP:0002121
3 febrile seizures 32 HP:0002373

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

Genetic tests related to Epilepsy, Juvenile Myoclonic 10:

# Genetic test Affiliating Genes
1 Epilepsy, Juvenile Myoclonic, Susceptibility to, 10 29 ICK

Anatomical Context for Epilepsy, Juvenile Myoclonic 10

Publications for Epilepsy, Juvenile Myoclonic 10

Variations for Epilepsy, Juvenile Myoclonic 10

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Juvenile Myoclonic 10:

75
# Symbol AA change Variation ID SNP ID
1 ICK p.Lys220Glu VAR_080555
2 ICK p.Lys305Thr VAR_080556 rs765078446

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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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