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 dementia 31 HP:0000726
4 bilateral tonic-clonic seizure 31 HP:0002069

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. 6 56
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 top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CERS1 NM_001492.6(GDF1):c.-1049C>TSNV Pathogenic 634540 rs561672108 19:19004360-19004360 19:18893551-18893551
2 CERS1 NM_001492.6(GDF1):c.-774C>GSNV Pathogenic 183023 rs200024180 19:18994937-18994937 19:18884128-18884128
3 CERS1 NM_001492.6(GDF1):c.-560C>TSNV Likely pathogenic 801420 19:18990187-18990187 19:18879378-18879378
4 CERS1 , GDF1 NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)SNV Conflicting interpretations of pathogenicity 220404 rs864622513 19:18979600-18979600 19:18868791-18868791
5 CERS1 , GDF1 NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)SNV Conflicting interpretations of pathogenicity 522571 rs374016704 19:18979434-18979434 19:18868625-18868625
6 CERS1 NM_001492.6(GDF1):c.-1159T>ASNV Uncertain significance 542129 rs918114133 19:19006718-19006718 19:18895909-18895909
7 CERS1 NM_001492.6(GDF1):c.-536G>ASNV Uncertain significance 475376 rs200539084 19:18990163-18990163 19:18879354-18879354
8 CERS1 NM_001492.6(GDF1):c.-925C>TSNV Uncertain significance 475370 rs1555707050 19:19004236-19004236 19:18893427-18893427
9 CERS1 NM_001492.6(GDF1):c.-422-3C>ASNV Uncertain significance 542132 rs1464119106 19:18989851-18989851 19:18879042-18879042
10 CERS1 NM_001492.6(GDF1):c.-615T>ASNV Uncertain significance 542126 rs902153714 19:18991127-18991127 19:18880318-18880318
11 CERS1 NM_001492.6(GDF1):c.-886G>ASNV Uncertain significance 475371 rs201005099 19:18995049-18995049 19:18884240-18884240
12 CERS1 NM_001492.6(GDF1):c.-466C>TSNV Uncertain significance 475377 rs559340743 19:18990093-18990093 19:18879284-18879284
13 CERS1 NM_001492.6(GDF1):c.-773G>TSNV Uncertain significance 475374 rs374308521 19:18994936-18994936 19:18884127-18884127
14 CERS1 NM_001492.6(GDF1):c.-1286C>TSNV Uncertain significance 475369 rs868136098 19:19006845-19006845 19:18896036-18896036
15 CERS1 NM_001492.6(GDF1):c.-305C>GSNV Uncertain significance 475367 rs774114834 19:18981421-18981421 19:18870612-18870612
16 CERS1 NM_001492.6(GDF1):c.-334G>TSNV Uncertain significance 642064 19:18989760-18989760 19:18878951-18878951
17 CERS1 NM_001492.6(GDF1):c.-487C>GSNV Uncertain significance 663158 19:18990114-18990114 19:18879305-18879305
18 CERS1 NM_001492.6(GDF1):c.-748C>TSNV Uncertain significance 656194 19:18994911-18994911 19:18884102-18884102
19 CERS1 NM_001492.6(GDF1):c.-766C>TSNV Uncertain significance 663486 19:18994929-18994929 19:18884120-18884120
20 CERS1 NM_001492.6(GDF1):c.-830G>ASNV Uncertain significance 654724 19:18994993-18994993 19:18884184-18884184
21 CERS1 NM_001492.6(GDF1):c.-1073C>ASNV Uncertain significance 643935 19:19004384-19004384 19:18893575-18893575
22 CERS1 NM_001492.6(GDF1):c.-1079T>CSNV Uncertain significance 651484 19:19006638-19006638 19:18895829-18895829
23 CERS1 NM_001492.6(GDF1):c.-1101C>GSNV Uncertain significance 645620 19:19006660-19006660 19:18895851-18895851
24 CERS1 NM_001492.6(GDF1):c.-1318_-1316CGG[4]short repeat Uncertain significance 663805 19:19006868-19006869 19:18896059-18896060
25 CERS1 NM_001492.6(GDF1):c.-898T>ASNV Uncertain significance 801421 19:18995061-18995061 19:18884252-18884252
26 CERS1 NM_001492.6(GDF1):c.-622G>ASNV Uncertain significance 861075 19:18991134-18991134 19:18880325-18880325
27 CERS1 NM_001492.6(GDF1):c.-796C>GSNV Uncertain significance 853212 19:18994959-18994959 19:18884150-18884150
28 CERS1 NM_001492.6(GDF1):c.-847A>GSNV Uncertain significance 840171 19:18995010-18995010 19:18884201-18884201
29 CERS1 NM_001492.6(GDF1):c.-1034G>ASNV Uncertain significance 846014 19:19004345-19004345 19:18893536-18893536
30 CERS1 NM_001492.6(GDF1):c.-1145C>GSNV Uncertain significance 844137 19:19006704-19006704 19:18895895-18895895
31 CERS1 NM_001492.6(GDF1):c.-732-3C>TSNV Uncertain significance 855183 19:18991247-18991247 19:18880438-18880438
32 CERS1 NM_001492.6(GDF1):c.-764C>GSNV Uncertain significance 542130 rs772627907 19:18994927-18994927 19:18884118-18884118
33 CERS1 NM_001492.6(GDF1):c.-312-2A>GSNV Uncertain significance 542131 rs771873576 19:18981430-18981430 19:18870621-18870621
34 CERS1 NM_001492.6(GDF1):c.-1066C>TSNV Uncertain significance 542127 rs374895377 19:19004377-19004377 19:18893568-18893568
35 CERS1 NM_001492.6(GDF1):c.-638G>ASNV Uncertain significance 571809 rs373056917 19:18991150-18991150 19:18880341-18880341
36 CERS1 NM_001492.6(GDF1):c.-472T>CSNV Uncertain significance 576500 rs1568297877 19:18990099-18990099 19:18879290-18879290
37 CERS1 NM_001492.6(GDF1):c.-581G>ASNV Uncertain significance 568282 rs925482243 19:18991093-18991093 19:18880284-18880284
38 CERS1 NM_001492.6(GDF1):c.-1142C>ASNV Uncertain significance 566038 rs1330389032 19:19006701-19006701 19:18895892-18895892
39 CERS1 NM_001492.6(GDF1):c.-904C>TSNV Uncertain significance 577580 rs202201774 19:18995067-18995067 19:18884258-18884258
40 CERS1 NM_001492.6(GDF1):c.-1300C>GSNV Uncertain significance 581713 rs1568309719 19:19006859-19006859 19:18896050-18896050
41 CERS1 NM_001492.6(GDF1):c.-1075G>ASNV Likely benign 801422 19:19006634-19006634 19:18895825-18895825
42 CERS1 NM_001492.6(GDF1):c.-1065G>ASNV Likely benign 475368 rs1038592004 19:19004376-19004376 19:18893567-18893567
43 CERS1 NM_001492.6(GDF1):c.-913-10C>TSNV Likely benign 707238 19:18995086-18995086 19:18884277-18884277
44 CERS1 NM_001492.6(GDF1):c.-1149C>GSNV Likely benign 774408 19:19006708-19006708 19:18895899-18895899
45 CERS1 NM_001492.6(GDF1):c.-660C>TSNV Likely benign 747419 19:18991172-18991172 19:18880363-18880363
46 CERS1 NM_001492.6(GDF1):c.-1017C>TSNV Likely benign 738827 19:19004328-19004328 19:18893519-18893519
47 CERS1 NM_001492.6(GDF1):c.-411G>ASNV Likely benign 755559 19:18989837-18989837 19:18879028-18879028
48 CERS1 NM_001492.6(GDF1):c.-906G>ASNV Likely benign 758102 19:18995069-18995069 19:18884260-18884260
49 CERS1 NM_001492.6(GDF1):c.-1257A>GSNV Likely benign 796091 19:19006816-19006816 19:18896007-18896007
50 CERS1 NM_001492.6(GDF1):c.-425C>TSNV Likely benign 475378 rs373928623 19:18990052-18990052 19:18879243-18879243

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
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