EJM10
MCID: EPL217
MIFTS: 20

Epilepsy, Juvenile Myoclonic 10 (EJM10)

Categories: Genetic diseases, Metabolic diseases, Muscle 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 12 72
Juvenile Myoclonic Epilepsy 10 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype
variable age at onset

Inheritance:
autosomal dominant


HPO:

31
epilepsy, juvenile myoclonic 10:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111325
OMIM® 57 617924
OMIM Phenotypic Series 57 PS254770
MeSH 44 D020190

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) (Updated 20-May-2021)

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 CILK1 (Ciliogenesis Associated Kinase 1). Related phenotypes are febrile seizure (within the age range of 3 months to 6 years) and generalized myoclonic seizure

Disease Ontology : 12 A juvenile myoclonic epilepsy that has material basis in heterozygous mutation in ICK on chromosome 6p12.1.

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Epilepsy, Juvenile Myoclonic 10:

31
# Description HPO Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
2 generalized myoclonic seizure 31 HP:0002123
3 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
febrile seizures
myoclonic seizures
absence seizures
tonic-clonic seizures
seizures, variable types
more

Clinical features from OMIM®:

617924 (Updated 20-May-2021)

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 CILK1

Anatomical Context for Epilepsy, Juvenile Myoclonic 10

Publications for Epilepsy, Juvenile Myoclonic 10

Articles related to Epilepsy, Juvenile Myoclonic 10:

# Title Authors PMID Year
1
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. 6 57
29539279 2018
2
Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes. 61
9762955 1998

Variations for Epilepsy, Juvenile Myoclonic 10

ClinVar genetic disease variations for Epilepsy, Juvenile Myoclonic 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CILK1 NM_014920.4(CILK1):c.1894C>T (p.Arg632Ter) SNV risk factor 518220 rs376111440 GRCh37: 6:52869952-52869952
GRCh38: 6:53005154-53005154
2 CILK1 NM_014920.4(CILK1):c.658A>G (p.Lys220Glu) SNV risk factor 518218 rs1554169267 GRCh37: 6:52883133-52883133
GRCh38: 6:53018335-53018335
3 CILK1 NM_014920.4(CILK1):c.1843G>A (p.Ala615Thr) SNV risk factor 518219 rs55932059 GRCh37: 6:52870003-52870003
GRCh38: 6:53005205-53005205
4 CILK1 NM_014920.4(CILK1):c.914A>C (p.Lys305Thr) SNV risk factor 518217 rs765078446 GRCh37: 6:52878698-52878698
GRCh38: 6:53013900-53013900
5 CILK1 NM_014920.5(CILK1):c.956C>G (p.Pro319Arg) SNV Uncertain significance 870562 GRCh37: 6:52878656-52878656
GRCh38: 6:53013858-53013858

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

72
# Symbol AA change Variation ID SNP ID
1 CILK1 p.Lys220Glu VAR_080555
2 CILK1 p.Lys305Thr VAR_080556 rs765078446

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 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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