EPM8
MCID: EPL155
MIFTS: 29

Epilepsy, Progressive Myoclonic, 8 (EPM8)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 8

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 8:

Name: Epilepsy, Progressive Myoclonic, 8 56 71
Epilepsy, Progressive Myoclonic 8 73 29 6
Epm8 56 58 73
Progressive Myoclonic Epilepsy Due to Cers1 Deficiency 58
Epilepsy, Myoclonic, Progressive, Type 8 39
Progressive Myoclonus Epilepsy Type 8 58
Progressive Myoclonic Epilepsy Type 8 58
Pme Type 8 58

Characteristics:

Orphanet epidemiological data:

58
progressive myoclonic epilepsy type 8
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
some patients may become wheelchair-bound
onset between 6 and 16 years of age
one family of algerian descent has been reported (last curated february 2015)


HPO:

31
epilepsy, progressive myoclonic, 8:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 616230
OMIM Phenotypic Series 56 PS254800
MeSH 43 D020191
ICD10 via Orphanet 33 G40.3
Orphanet 58 ORPHA424027
UMLS 71 C4015619

Summaries for Epilepsy, Progressive Myoclonic, 8

UniProtKB/Swiss-Prot : 73 Epilepsy, progressive myoclonic 8: A severe form of progressive myoclonic epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 8, also known as epilepsy, progressive myoclonic 8, is related to progressive myoclonus epilepsy 8 and myoclonic epilepsy of unverricht and lundborg, and has symptoms including myoclonus, action An important gene associated with Epilepsy, Progressive Myoclonic, 8 is CERS1 (Ceramide Synthase 1), and among its related pathways/superpathways is Sphingolipid metabolism. Related phenotypes are intellectual disability and myoclonus

More information from OMIM: 616230 PS254800

Related Diseases for Epilepsy, Progressive Myoclonic, 8

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic, 8:



Diseases related to Epilepsy, Progressive Myoclonic, 8

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 8

Human phenotypes related to Epilepsy, Progressive Myoclonic, 8:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 myoclonus 31 HP:0001336
3 generalized tonic-clonic seizures 31 HP:0002069
4 dementia 31 HP:0000726

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
cognitive impairment
generalized tonic-clonic seizures
dementia
myoclonus, action
mental retardation
more

Clinical features from OMIM:

616230

UMLS symptoms related to Epilepsy, Progressive Myoclonic, 8:


myoclonus, action

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 8

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 8

Genetic Tests for Epilepsy, Progressive Myoclonic, 8

Genetic tests related to Epilepsy, Progressive Myoclonic, 8:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic 8 29 CERS1

Anatomical Context for Epilepsy, Progressive Myoclonic, 8

Publications for Epilepsy, Progressive Myoclonic, 8

Articles related to Epilepsy, Progressive Myoclonic, 8:

# Title Authors PMID Year
1
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. 56 6
24782409 2014
2
Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. 56 6
19243074 2009
3
A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation. 56
21625621 2011
4
Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia. 61
30800706 2018

Variations for Epilepsy, Progressive Myoclonic, 8

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 8:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CERS1 NM_001492.6(GDF1):c.-774C>GSNV Pathogenic 183023 rs200024180 19:18994937-18994937 19:18884128-18884128
2 CERS1 NM_001492.6(GDF1):c.-1049C>TSNV Pathogenic 634540 rs561672108 19:19004360-19004360 19:18893551-18893551
3 CERS1 NM_001492.6(GDF1):c.-560C>TSNV Likely pathogenic 801420 19:18990187-18990187 19:18879378-18879378
4 CERS1 NM_001492.6(GDF1):c.-898T>ASNV Uncertain significance 801421 19:18995061-18995061 19:18884252-18884252
5 CERS1 NM_001492.6(GDF1):c.-830G>ASNV Uncertain significance 654724 19:18994993-18994993 19:18884184-18884184
6 CERS1 NM_001492.6(GDF1):c.-334G>TSNV Uncertain significance 642064 19:18989760-18989760 19:18878951-18878951
7 CERS1 NM_001492.6(GDF1):c.-487C>GSNV Uncertain significance 663158 19:18990114-18990114 19:18879305-18879305
8 CERS1 NM_001492.6(GDF1):c.-748C>TSNV Uncertain significance 656194 19:18994911-18994911 19:18884102-18884102
9 CERS1 NM_001492.6(GDF1):c.-766C>TSNV Uncertain significance 663486 19:18994929-18994929 19:18884120-18884120
10 CERS1 NM_001492.6(GDF1):c.-1073C>ASNV Uncertain significance 643935 19:19004384-19004384 19:18893575-18893575
11 CERS1 NM_001492.6(GDF1):c.-1079T>CSNV Uncertain significance 651484 19:19006638-19006638 19:18895829-18895829
12 CERS1 NM_001492.6(GDF1):c.-1101C>GSNV Uncertain significance 645620 19:19006660-19006660 19:18895851-18895851
13 CERS1 NM_001492.6(GDF1):c.-1318_-1316CGG[4]short repeat Uncertain significance 663805 19:19006868-19006869 19:18896059-18896060
14 CERS1 NM_001492.6(GDF1):c.-764C>GSNV Uncertain significance 542130 rs772627907 19:18994927-18994927 19:18884118-18884118
15 CERS1 NM_001492.6(GDF1):c.-312-2A>GSNV Uncertain significance 542131 rs771873576 19:18981430-18981430 19:18870621-18870621
16 CERS1 NM_001492.6(GDF1):c.-1066C>TSNV Uncertain significance 542127 rs374895377 19:19004377-19004377 19:18893568-18893568
17 CERS1 NM_001492.6(GDF1):c.-638G>ASNV Uncertain significance 571809 rs373056917 19:18991150-18991150 19:18880341-18880341
18 CERS1 NM_001492.6(GDF1):c.-472T>CSNV Uncertain significance 576500 rs1568297877 19:18990099-18990099 19:18879290-18879290
19 CERS1 NM_001492.6(GDF1):c.-581G>ASNV Uncertain significance 568282 rs925482243 19:18991093-18991093 19:18880284-18880284
20 CERS1 NM_001492.6(GDF1):c.-1142C>ASNV Uncertain significance 566038 rs1330389032 19:19006701-19006701 19:18895892-18895892
21 CERS1 NM_001492.6(GDF1):c.-904C>TSNV Uncertain significance 577580 rs202201774 19:18995067-18995067 19:18884258-18884258
22 CERS1 NM_001492.6(GDF1):c.-1300C>GSNV Uncertain significance 581713 rs1568309719 19:19006859-19006859 19:18896050-18896050
23 CERS1 NM_001492.6(GDF1):c.-886G>ASNV Uncertain significance 475371 rs201005099 19:18995049-18995049 19:18884240-18884240
24 CERS1 NM_001492.6(GDF1):c.-466C>TSNV Uncertain significance 475377 rs559340743 19:18990093-18990093 19:18879284-18879284
25 CERS1 NM_001492.6(GDF1):c.-615T>ASNV Uncertain significance 542126 rs902153714 19:18991127-18991127 19:18880318-18880318
26 CERS1 NM_001492.6(GDF1):c.-773G>TSNV Uncertain significance 475374 rs374308521 19:18994936-18994936 19:18884127-18884127
27 CERS1 NM_001492.6(GDF1):c.-1286C>TSNV Uncertain significance 475369 rs868136098 19:19006845-19006845 19:18896036-18896036
28 CERS1 NM_001492.6(GDF1):c.-305C>GSNV Uncertain significance 475367 rs774114834 19:18981421-18981421 19:18870612-18870612
29 CERS1 NM_001492.6(GDF1):c.-536G>ASNV Uncertain significance 475376 rs200539084 19:18990163-18990163 19:18879354-18879354
30 CERS1 NM_001492.6(GDF1):c.-925C>TSNV Uncertain significance 475370 rs1555707050 19:19004236-19004236 19:18893427-18893427
31 CERS1 NM_001492.6(GDF1):c.-1159T>ASNV Uncertain significance 542129 rs918114133 19:19006718-19006718 19:18895909-18895909
32 CERS1 NM_001492.6(GDF1):c.-422-3C>ASNV Uncertain significance 542132 rs1464119106 19:18989851-18989851 19:18879042-18879042
33 CERS1 NM_001492.6(GDF1):c.-846T>CSNV Likely benign 542133 rs1426719277 19:18995009-18995009 19:18884200-18884200
34 CERS1 NM_001492.6(GDF1):c.-489C>TSNV Likely benign 542134 rs781327266 19:18990116-18990116 19:18879307-18879307
35 CERS1 NM_001492.6(GDF1):c.-741C>TSNV Likely benign 542136 rs779941388 19:18994904-18994904 19:18884095-18884095
36 CERS1 NM_001492.6(GDF1):c.-733+9A>GSNV Likely benign 475375 rs200695801 19:18994887-18994887 19:18884078-18884078
37 CERS1 NM_001492.6(GDF1):c.-417C>TSNV Likely benign 475379 rs377364343 19:18989843-18989843 19:18879034-18879034
38 CERS1 NM_001492.6(GDF1):c.-1065G>ASNV Likely benign 475368 rs1038592004 19:19004376-19004376 19:18893567-18893567
39 CERS1 NM_001492.6(GDF1):c.-1075G>ASNV Likely benign 801422 19:19006634-19006634 19:18895825-18895825

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 8:

73
# Symbol AA change Variation ID SNP ID
1 CERS1 p.His183Gln VAR_073336 rs200024180

Expression for Epilepsy, Progressive Myoclonic, 8

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 8.

Pathways for Epilepsy, Progressive Myoclonic, 8

Pathways related to Epilepsy, Progressive Myoclonic, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 GDF1 CERS1

GO Terms for Epilepsy, Progressive Myoclonic, 8

Molecular functions related to Epilepsy, Progressive Myoclonic, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.62 GDF1 CERS1

Sources for Epilepsy, Progressive Myoclonic, 8

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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