EPM11
MCID: EPL254
MIFTS: 16

Epilepsy, Progressive Myoclonic, 11 (EPM11)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 11

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 11:

Name: Epilepsy, Progressive Myoclonic, 11 56 6
Epm11 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
de novo mutation
normal early development
developmental regression becomes apparent around 2 years of age
four unrelated patients have been reported (last curated may 2020)


Classifications:



External Ids:

OMIM 56 618876
OMIM Phenotypic Series 56 PS254800

Summaries for Epilepsy, Progressive Myoclonic, 11

OMIM : 56 Progressive myoclonic epilepsy-11 (EPM11) is a neurodegenerative disorder characterized by onset of developmental regression and various types of seizures around 2 years of age after relatively normal early development. The seizures are usually refractory to treatment and are associated with multiple abnormalities on EEG. During the first and second decades, affected individuals develop additional neurologic signs and symptoms, including pyramidal, extrapyramidal, and cerebellar signs such as spasticity, loss of independent ambulation, myoclonus, tremor, and ataxia. Cognitive impairment is severe, and patients can speak only a few words or are non-verbal (summary by Hamanaka et al., 2020). For discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (618876)

MalaCards based summary : Epilepsy, Progressive Myoclonic, 11, is also known as epm11. An important gene associated with Epilepsy, Progressive Myoclonic, 11 is SEMA6B (Semaphorin 6B). Affiliated tissues include brain.

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 11

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
developmental regression
spasticity
ataxia
myoclonus
tremor
more
Head And Neck Head:
small head circumference

Clinical features from OMIM:

618876

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 11

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 11

Genetic Tests for Epilepsy, Progressive Myoclonic, 11

Anatomical Context for Epilepsy, Progressive Myoclonic, 11

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 11:

40
Brain

Publications for Epilepsy, Progressive Myoclonic, 11

Articles related to Epilepsy, Progressive Myoclonic, 11:

# Title Authors PMID Year
1
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. 6 56
32169168 2020

Variations for Epilepsy, Progressive Myoclonic, 11

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 11:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEMA6B NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs)duplication Pathogenic 872932
2 SEMA6B NM_032108.4:c.1976_1982delshort repeat Pathogenic 872933
3 SEMA6B NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)deletion Pathogenic 872934

Expression for Epilepsy, Progressive Myoclonic, 11

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 11.

Pathways for Epilepsy, Progressive Myoclonic, 11

GO Terms for Epilepsy, Progressive Myoclonic, 11

Sources for Epilepsy, Progressive Myoclonic, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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