EPM8
MCID: EPL155
MIFTS: 27

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 58 74
Epilepsy, Progressive Myoclonic 8 76 30 6
Epm8 58 60 76
Progressive Myoclonic Epilepsy Due to Cers1 Deficiency 60
Epilepsy, Myoclonic, Progressive, Type 8 41
Progressive Myoclonic Epilepsy Type 8 60
Progressive Myoclonus Epilepsy Type 8 60
Pme Type 8 60

Characteristics:

Orphanet epidemiological data:

60
progressive myoclonic epilepsy type 8
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

58
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:

33
epilepsy, progressive myoclonic, 8:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616230
MeSH 45 D020191
ICD10 via Orphanet 35 G40.3
Orphanet 60 ORPHA424027
UMLS 74 C4015619

Summaries for Epilepsy, Progressive Myoclonic, 8

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 616230

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:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 myoclonus 33 HP:0001336
3 generalized tonic-clonic seizures 33 HP:0002069
4 dementia 33 HP:0000726

Symptoms via clinical synopsis from OMIM:

58
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 30 CERS1

Anatomical Context for Epilepsy, Progressive Myoclonic, 8

Publications for Epilepsy, Progressive Myoclonic, 8

Articles related to Epilepsy, Progressive Myoclonic, 8:

# Title Authors Year
1
Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia. ( 30800706 )
2018
2
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
3
Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. ( 19243074 )
2009

Variations for Epilepsy, Progressive Myoclonic, 8

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

76
# Symbol AA change Variation ID SNP ID
1 CERS1 p.His183Gln VAR_073336 rs200024180

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

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 CERS1; GDF1 NM_021267.4(CERS1): c.429A> G (p.Ala143=) single nucleotide variant Benign rs200107216 GRCh38 Chromosome 19, 18884248: 18884248
2 CERS1; GDF1 NM_021267.4(CERS1): c.429A> G (p.Ala143=) single nucleotide variant Benign rs200107216 GRCh37 Chromosome 19, 18995057: 18995057
3 CERS1 NM_021267.4(CERS1): c.549C> G (p.His183Gln) single nucleotide variant Pathogenic rs200024180 GRCh37 Chromosome 19, 18994937: 18994937
4 CERS1 NM_021267.4(CERS1): c.549C> G (p.His183Gln) single nucleotide variant Pathogenic rs200024180 GRCh38 Chromosome 19, 18884128: 18884128
5 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh38 Chromosome 19, 18868791: 18868791
6 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh37 Chromosome 19, 18979600: 18979600
7 CERS1 NM_021267.4(CERS1): c.258G> A (p.Ala86=) single nucleotide variant Likely benign rs1038592004 GRCh38 Chromosome 19, 18893567: 18893567
8 CERS1 NM_021267.4(CERS1): c.258G> A (p.Ala86=) single nucleotide variant Likely benign rs1038592004 GRCh37 Chromosome 19, 19004376: 19004376
9 CERS1 NM_021267.4(CERS1): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs201005099 GRCh38 Chromosome 19, 18884240: 18884240
10 CERS1 NM_021267.4(CERS1): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs201005099 GRCh37 Chromosome 19, 18995049: 18995049
11 CERS1 NM_021267.4(CERS1): c.906C> T (p.Ile302=) single nucleotide variant Likely benign rs377364343 GRCh37 Chromosome 19, 18989843: 18989843
12 CERS1 NM_021267.4(CERS1): c.906C> T (p.Ile302=) single nucleotide variant Likely benign rs377364343 GRCh38 Chromosome 19, 18879034: 18879034
13 CERS1 NM_021267.4(CERS1): c.857C> T (p.Ala286Val) single nucleotide variant Uncertain significance rs559340743 GRCh37 Chromosome 19, 18990093: 18990093
14 CERS1 NM_021267.4(CERS1): c.857C> T (p.Ala286Val) single nucleotide variant Uncertain significance rs559340743 GRCh38 Chromosome 19, 18879284: 18879284
15 CERS1 NM_021267.4(CERS1): c.590+9A> G single nucleotide variant Likely benign rs200695801 GRCh37 Chromosome 19, 18994887: 18994887
16 CERS1 NM_021267.4(CERS1): c.590+9A> G single nucleotide variant Likely benign rs200695801 GRCh38 Chromosome 19, 18884078: 18884078
17 CERS1 NM_021267.4(CERS1): c.550G> T (p.Val184Leu) single nucleotide variant Uncertain significance rs374308521 GRCh37 Chromosome 19, 18994936: 18994936
18 CERS1 NM_021267.4(CERS1): c.550G> T (p.Val184Leu) single nucleotide variant Uncertain significance rs374308521 GRCh38 Chromosome 19, 18884127: 18884127
19 CERS1 NM_021267.4(CERS1): c.492C> T (p.Tyr164=) single nucleotide variant Benign rs45601540 GRCh38 Chromosome 19, 18884185: 18884185
20 CERS1 NM_021267.4(CERS1): c.492C> T (p.Tyr164=) single nucleotide variant Benign rs45601540 GRCh37 Chromosome 19, 18994994: 18994994
21 CERS1 NM_021267.4(CERS1): c.450C> T (p.Ala150=) single nucleotide variant Benign rs201106410 GRCh37 Chromosome 19, 18995036: 18995036
22 CERS1 NM_021267.4(CERS1): c.450C> T (p.Ala150=) single nucleotide variant Benign rs201106410 GRCh38 Chromosome 19, 18884227: 18884227
23 CERS1 NM_021267.4(CERS1): c.37C> T (p.Pro13Ser) single nucleotide variant Uncertain significance rs868136098 GRCh37 Chromosome 19, 19006845: 19006845
24 CERS1 NM_021267.4(CERS1): c.37C> T (p.Pro13Ser) single nucleotide variant Uncertain significance rs868136098 GRCh38 Chromosome 19, 18896036: 18896036
25 CERS1 NM_021267.4(CERS1): c.1018C> G (p.Leu340Val) single nucleotide variant Uncertain significance rs774114834 GRCh37 Chromosome 19, 18981421: 18981421
26 CERS1 NM_021267.4(CERS1): c.1018C> G (p.Leu340Val) single nucleotide variant Uncertain significance rs774114834 GRCh38 Chromosome 19, 18870612: 18870612
27 CERS1 NM_021267.4(CERS1): c.898C> T (p.Leu300=) single nucleotide variant Likely benign rs373928623 GRCh38 Chromosome 19, 18879243: 18879243
28 CERS1 NM_021267.4(CERS1): c.898C> T (p.Leu300=) single nucleotide variant Likely benign rs373928623 GRCh37 Chromosome 19, 18990052: 18990052
29 CERS1 NM_021267.4(CERS1): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs200539084 GRCh38 Chromosome 19, 18879354: 18879354
30 CERS1 NM_021267.4(CERS1): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs200539084 GRCh37 Chromosome 19, 18990163: 18990163
31 CERS1 NM_021267.4(CERS1): c.398C> T (p.Ser133Phe) single nucleotide variant Uncertain significance rs1555707050 GRCh38 Chromosome 19, 18893427: 18893427
32 CERS1 NM_021267.4(CERS1): c.398C> T (p.Ser133Phe) single nucleotide variant Uncertain significance rs1555707050 GRCh37 Chromosome 19, 19004236: 19004236
33 CERS1 NM_021267.4(CERS1): c.164T> A (p.Leu55Gln) single nucleotide variant Uncertain significance rs918114133 GRCh38 Chromosome 19, 18895909: 18895909
34 CERS1 NM_021267.4(CERS1): c.164T> A (p.Leu55Gln) single nucleotide variant Uncertain significance rs918114133 GRCh37 Chromosome 19, 19006718: 19006718
35 CERS1 NM_021267.4(CERS1): c.16C> A (p.Pro6Thr) single nucleotide variant Uncertain significance rs1041161328 GRCh38 Chromosome 19, 18896057: 18896057
36 CERS1 NM_021267.4(CERS1): c.16C> A (p.Pro6Thr) single nucleotide variant Uncertain significance rs1041161328 GRCh37 Chromosome 19, 19006866: 19006866
37 CERS1 NM_021267.4(CERS1): c.901-3C> A single nucleotide variant Uncertain significance rs1464119106 GRCh38 Chromosome 19, 18879042: 18879042
38 CERS1 NM_021267.4(CERS1): c.901-3C> A single nucleotide variant Uncertain significance rs1464119106 GRCh37 Chromosome 19, 18989851: 18989851
39 CERS1 NM_021267.4(CERS1): c.477T> C (p.Tyr159=) single nucleotide variant Likely benign rs1426719277 GRCh38 Chromosome 19, 18884200: 18884200
40 CERS1 NM_021267.4(CERS1): c.477T> C (p.Tyr159=) single nucleotide variant Likely benign rs1426719277 GRCh37 Chromosome 19, 18995009: 18995009
41 CERS1 NM_021267.4(CERS1): c.834C> T (p.Ile278=) single nucleotide variant Likely benign rs781327266 GRCh38 Chromosome 19, 18879307: 18879307
42 CERS1 NM_021267.4(CERS1): c.834C> T (p.Ile278=) single nucleotide variant Likely benign rs781327266 GRCh37 Chromosome 19, 18990116: 18990116
43 CERS1 NM_021267.4(CERS1): c.708T> A (p.His236Gln) single nucleotide variant Uncertain significance rs902153714 GRCh37 Chromosome 19, 18991127: 18991127
44 CERS1 NM_021267.4(CERS1): c.708T> A (p.His236Gln) single nucleotide variant Uncertain significance rs902153714 GRCh38 Chromosome 19, 18880318: 18880318
45 CERS1 NM_021267.4(CERS1): c.582C> T (p.Tyr194=) single nucleotide variant Likely benign rs779941388 GRCh38 Chromosome 19, 18884095: 18884095
46 CERS1 NM_021267.4(CERS1): c.582C> T (p.Tyr194=) single nucleotide variant Likely benign rs779941388 GRCh37 Chromosome 19, 18994904: 18994904
47 CERS1 NM_021267.4(CERS1): c.559C> G (p.Leu187Val) single nucleotide variant Uncertain significance rs772627907 GRCh38 Chromosome 19, 18884118: 18884118
48 CERS1 NM_021267.4(CERS1): c.559C> G (p.Leu187Val) single nucleotide variant Uncertain significance rs772627907 GRCh37 Chromosome 19, 18994927: 18994927
49 CERS1 NM_021267.4(CERS1): c.1011-2A> G single nucleotide variant Uncertain significance rs771873576 GRCh37 Chromosome 19, 18981430: 18981430
50 CERS1 NM_021267.4(CERS1): c.1011-2A> G single nucleotide variant Uncertain significance rs771873576 GRCh38 Chromosome 19, 18870621: 18870621

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 CERS1 GDF1

GO Terms for Epilepsy, Progressive Myoclonic, 8

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

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 8.62 CERS1 GDF1

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 CERS1 GDF1

Sources for Epilepsy, Progressive Myoclonic, 8

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