EPM8
MCID: EPL155
MIFTS: 28

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 57 72
Epilepsy, Progressive Myoclonic 8 74 29 6
Epm8 57 59 74
Progressive Myoclonic Epilepsy Due to Cers1 Deficiency 59
Epilepsy, Myoclonic, Progressive, Type 8 40
Progressive Myoclonic Epilepsy Type 8 59
Progressive Myoclonus Epilepsy Type 8 59
Pme Type 8 59

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy type 8
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

57
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:

32
epilepsy, progressive myoclonic, 8:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

MeSH 44 D020191
ICD10 via Orphanet 34 G40.3
Orphanet 59 ORPHA424027
UMLS 72 C4015619

Summaries for Epilepsy, Progressive Myoclonic, 8

UniProtKB/Swiss-Prot : 74 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 myoclonic epilepsy of unverricht and lundborg and ataxia and polyneuropathy, adult-onset, 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:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 myoclonus 32 HP:0001336
3 generalized tonic-clonic seizures 32 HP:0002069
4 dementia 32 HP:0000726

Symptoms via clinical synopsis from OMIM:

57
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. 8 71
24782409 2014
2
Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. 8 71
19243074 2009
3
A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation. 8
21625621 2011
4
Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia. 38
30800706 2018

Variations for Epilepsy, Progressive Myoclonic, 8

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

6 (show all 43)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CERS1 NM_021267.5(CERS1): c.549C> G (p.His183Gln) single nucleotide variant Pathogenic rs200024180 19:18994937-18994937 19:18884128-18884128
2 CERS1 NM_021267.5(CERS1): c.274C> T (p.Gln92Ter) single nucleotide variant Pathogenic 19:19004360-19004360 19:18893551-18893551
3 CERS1 ; GDF1 NM_001492.6(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 19:18979600-18979600 19:18868791-18868791
4 CERS1 NM_021267.5(CERS1): c.685G> A (p.Gly229Ser) single nucleotide variant Uncertain significance 19:18991150-18991150 19:18880341-18880341
5 CERS1 NM_021267.5(CERS1): c.851T> C (p.Phe284Ser) single nucleotide variant Uncertain significance 19:18990099-18990099 19:18879290-18879290
6 CERS1 NM_021267.5(CERS1): c.742G> A (p.Gly248Ser) single nucleotide variant Uncertain significance 19:18991093-18991093 19:18880284-18880284
7 CERS1 NM_021267.5(CERS1): c.181C> A (p.Leu61Met) single nucleotide variant Uncertain significance 19:19006701-19006701 19:18895892-18895892
8 CERS1 NM_021267.5(CERS1): c.419C> T (p.Pro140Leu) single nucleotide variant Uncertain significance 19:18995067-18995067 19:18884258-18884258
9 CERS1 NM_021267.5(CERS1): c.23C> G (p.Ala8Gly) single nucleotide variant Uncertain significance 19:19006859-19006859 19:18896050-18896050
10 CERS1 NM_021267.5(CERS1): c.989G> T (p.Ser330Ile) single nucleotide variant Uncertain significance 19:18989760-18989760 19:18878951-18878951
11 CERS1 NM_021267.5(CERS1): c.836C> G (p.Pro279Arg) single nucleotide variant Uncertain significance 19:18990114-18990114 19:18879305-18879305
12 CERS1 NM_021267.5(CERS1): c.575C> T (p.Ser192Phe) single nucleotide variant Uncertain significance 19:18994911-18994911 19:18884102-18884102
13 CERS1 NM_021267.5(CERS1): c.557C> T (p.Thr186Ile) single nucleotide variant Uncertain significance 19:18994929-18994929 19:18884120-18884120
14 CERS1 NM_021267.5(CERS1): c.493G> A (p.Ala165Thr) single nucleotide variant Uncertain significance 19:18994993-18994993 19:18884184-18884184
15 CERS1 NM_021267.5(CERS1): c.250C> A (p.Pro84Thr) single nucleotide variant Uncertain significance 19:19004384-19004384 19:18893575-18893575
16 CERS1 NM_021267.5(CERS1): c.244T> C (p.Phe82Leu) single nucleotide variant Uncertain significance 19:19006638-19006638 19:18895829-18895829
17 CERS1 NM_021267.5(CERS1): c.222C> G (p.Arg74=) single nucleotide variant Uncertain significance 19:19006660-19006660 19:18895851-18895851
18 CERS1 NM_021267.5(CERS1): c.5_7CGG[4] (p.Ala4dup) short repeat Uncertain significance 19:19006868-19006869 19:18896062-18896064
19 CERS1 NM_021267.5(CERS1): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs201005099 19:18995049-18995049 19:18884240-18884240
20 CERS1 NM_021267.5(CERS1): c.857C> T (p.Ala286Val) single nucleotide variant Uncertain significance rs559340743 19:18990093-18990093 19:18879284-18879284
21 CERS1 NM_021267.5(CERS1): c.550G> T (p.Val184Leu) single nucleotide variant Uncertain significance rs374308521 19:18994936-18994936 19:18884127-18884127
22 CERS1 NM_021267.5(CERS1): c.37C> T (p.Pro13Ser) single nucleotide variant Uncertain significance rs868136098 19:19006845-19006845 19:18896036-18896036
23 CERS1 NM_021267.5(CERS1): c.1018C> G (p.Leu340Val) single nucleotide variant Uncertain significance rs774114834 19:18981421-18981421 19:18870612-18870612
24 CERS1 NM_021267.5(CERS1): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs200539084 19:18990163-18990163 19:18879354-18879354
25 CERS1 NM_021267.5(CERS1): c.398C> T (p.Ser133Phe) single nucleotide variant Uncertain significance rs1555707050 19:19004236-19004236 19:18893427-18893427
26 CERS1 NM_021267.5(CERS1): c.901-3C> A single nucleotide variant Uncertain significance rs1464119106 19:18989851-18989851 19:18879042-18879042
27 CERS1 NM_021267.5(CERS1): c.164T> A (p.Leu55Gln) single nucleotide variant Uncertain significance rs918114133 19:19006718-19006718 19:18895909-18895909
28 CERS1 NM_021267.5(CERS1): c.16C> A (p.Pro6Thr) single nucleotide variant Uncertain significance rs1041161328 19:19006866-19006866 19:18896057-18896057
29 CERS1 NM_021267.5(CERS1): c.559C> G (p.Leu187Val) single nucleotide variant Uncertain significance rs772627907 19:18994927-18994927 19:18884118-18884118
30 CERS1 NM_021267.5(CERS1): c.1011-2A> G single nucleotide variant Uncertain significance rs771873576 19:18981430-18981430 19:18870621-18870621
31 CERS1 NM_021267.5(CERS1): c.257C> T (p.Ala86Val) single nucleotide variant Uncertain significance rs374895377 19:19004377-19004377 19:18893568-18893568
32 CERS1 NM_021267.5(CERS1): c.708T> A (p.His236Gln) single nucleotide variant Uncertain significance rs902153714 19:18991127-18991127 19:18880318-18880318
33 CERS1 NM_021267.5(CERS1): c.582C> T (p.Tyr194=) single nucleotide variant Likely benign rs779941388 19:18994904-18994904 19:18884095-18884095
34 CERS1 NM_021267.5(CERS1): c.258G> A (p.Ala86=) single nucleotide variant Likely benign rs1038592004 19:19004376-19004376 19:18893567-18893567
35 CERS1 NM_021267.5(CERS1): c.178C> T (p.Leu60=) single nucleotide variant Likely benign rs760185006 19:19006704-19006704 19:18895895-18895895
36 CERS1 NM_021267.5(CERS1): c.477T> C (p.Tyr159=) single nucleotide variant Likely benign rs1426719277 19:18995009-18995009 19:18884200-18884200
37 CERS1 NM_021267.5(CERS1): c.834C> T (p.Ile278=) single nucleotide variant Likely benign rs781327266 19:18990116-18990116 19:18879307-18879307
38 CERS1 NM_021267.5(CERS1): c.898C> T (p.Leu300=) single nucleotide variant Likely benign rs373928623 19:18990052-18990052 19:18879243-18879243
39 CERS1 NM_021267.5(CERS1): c.590+9A> G single nucleotide variant Likely benign rs200695801 19:18994887-18994887 19:18884078-18884078
40 CERS1 NM_021267.5(CERS1): c.906C> T (p.Ile302=) single nucleotide variant Likely benign rs377364343 19:18989843-18989843 19:18879034-18879034
41 CERS1 NM_021267.5(CERS1): c.492C> T (p.Tyr164=) single nucleotide variant Benign rs45601540 19:18994994-18994994 19:18884185-18884185
42 CERS1 NM_021267.5(CERS1): c.450C> T (p.Ala150=) single nucleotide variant Benign rs201106410 19:18995036-18995036 19:18884227-18884227
43 CERS1 ; GDF1 NM_021267.5(CERS1): c.429A> G (p.Ala143=) single nucleotide variant Benign rs200107216 19:18995057-18995057 19:18884248-18884248

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

74
# 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

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73 UMLS via Orphanet
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