EPM12
MCID: EPL257
MIFTS: 13

Epilepsy, Progressive Myoclonic, 12 (EPM12)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 12

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 12:

Name: Epilepsy, Progressive Myoclonic, 12 57 6
Epm12 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the second decade
two unrelated consanguineous families have been reported (last curated february 2021)


Classifications:



External Ids:

OMIM® 57 619191
OMIM Phenotypic Series 57 PS254800

Summaries for Epilepsy, Progressive Myoclonic, 12

OMIM® : 57 Progressive myoclonic epilepsy-12 (EPM12) is an autosomal recessive neurologic disorder characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety (summary by Mazzola et al., 2021). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (619191) (Updated 05-Apr-2021)

MalaCards based summary : Epilepsy, Progressive Myoclonic, 12, is also known as epm12. An important gene associated with Epilepsy, Progressive Myoclonic, 12 is SLC7A6OS (Solute Carrier Family 7 Member 6 Opposite Strand).

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 12

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
myoclonus
dysmetria
cerebellar atrophy
cerebral atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
depression
attention-deficit disorder

Clinical features from OMIM®:

619191 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 12

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 12

Genetic Tests for Epilepsy, Progressive Myoclonic, 12

Anatomical Context for Epilepsy, Progressive Myoclonic, 12

Publications for Epilepsy, Progressive Myoclonic, 12

Articles related to Epilepsy, Progressive Myoclonic, 12:

(showing 1, show less)
# Title Authors PMID Year
1
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. 57 6
33085104 2021

Variations for Epilepsy, Progressive Myoclonic, 12

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 12:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC7A6OS NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) SNV Pathogenic 973432 GRCh37: 16:68344639-68344639
GRCh38: 16:68310736-68310736

Expression for Epilepsy, Progressive Myoclonic, 12

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 12.

Pathways for Epilepsy, Progressive Myoclonic, 12

GO Terms for Epilepsy, Progressive Myoclonic, 12

Sources for Epilepsy, Progressive Myoclonic, 12

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....