EPM6
MCID: EPL210
MIFTS: 28

Epilepsy, Progressive Myoclonic, 6 (EPM6)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 6

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 6:

Name: Epilepsy, Progressive Myoclonic, 6 58 74
Epilepsy, Progressive Myoclonic 6 58 76 30 13 6
Epm6 58 60 76
Gosr2-Related Progressive Myoclonus Ataxia 60
North Sea Progressive Myoclonus Epilepsy 60
Epilepsy, Myoclonic, Progressive, Type 6 41
Progressive Myoclonic Epilepsy Type 6 60
Progressive Myoclonus Epilepsy Type 6 60
Pme Type 6 60

Characteristics:

Orphanet epidemiological data:

60
progressive myoclonic epilepsy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of ataxia between 1 and 3 years of age
onset of myoclonus later in childhood
some patients become wheelchair-bound in second decade


HPO:

33
epilepsy, progressive myoclonic, 6:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic, 6

OMIM : 58 Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade (summary by Corbett et al., 2011). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (614018)

MalaCards based summary : Epilepsy, Progressive Myoclonic, 6, also known as epilepsy, progressive myoclonic 6, is related to gosr2-related progressive myoclonus ataxia and epilepsy, and has symptoms including seizures, ataxia and absence seizures. An important gene associated with Epilepsy, Progressive Myoclonic, 6 is GOSR2 (Golgi SNAP Receptor Complex Member 2). Related phenotypes are ataxia and dysarthria

UniProtKB/Swiss-Prot : 76 Epilepsy, progressive myoclonic 6: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.

Related Diseases for Epilepsy, Progressive Myoclonic, 6

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic, 6:



Diseases related to Epilepsy, Progressive Myoclonic, 6

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 6

Human phenotypes related to Epilepsy, Progressive Myoclonic, 6:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 dysarthria 33 HP:0001260
3 tremor 33 HP:0001337
4 scoliosis 33 HP:0002650
5 myoclonus 33 HP:0001336
6 areflexia 33 HP:0001284
7 difficulty walking 33 HP:0002355
8 atonic seizures 33 HP:0010819
9 elevated serum creatine kinase 33 HP:0003236
10 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
dysarthria
absence seizures
areflexia
more
Laboratory Abnormalities:
increased serum creatine kinase (in some patients)

Skeletal Spine:
scoliosis

Clinical features from OMIM:

614018

UMLS symptoms related to Epilepsy, Progressive Myoclonic, 6:


seizures, ataxia, absence seizures, myoclonus, action, drop attack

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 6

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 6

Genetic Tests for Epilepsy, Progressive Myoclonic, 6

Genetic tests related to Epilepsy, Progressive Myoclonic, 6:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic 6 30 GOSR2

Anatomical Context for Epilepsy, Progressive Myoclonic, 6

Publications for Epilepsy, Progressive Myoclonic, 6

Articles related to Epilepsy, Progressive Myoclonic, 6:

# Title Authors Year
1
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
2
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013

Variations for Epilepsy, Progressive Myoclonic, 6

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 6:

76
# Symbol AA change Variation ID SNP ID
1 GOSR2 p.Gly144Trp VAR_065833 rs387906881

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GOSR2 NM_004287.4(GOSR2): c.-12G> C single nucleotide variant Benign rs183199 GRCh37 Chromosome 17, 45000547: 45000547
2 GOSR2 NM_004287.4(GOSR2): c.-12G> C single nucleotide variant Benign rs183199 GRCh38 Chromosome 17, 46923181: 46923181
3 GOSR2 NM_004287.4(GOSR2): c.491_493delAGA (p.Lys164del) deletion Pathogenic rs863223401 GRCh37 Chromosome 17, 45015978: 45015980
4 GOSR2 NM_004287.4(GOSR2): c.491_493delAGA (p.Lys164del) deletion Pathogenic rs863223401 GRCh38 Chromosome 17, 46938612: 46938614
5 GOSR2 NM_004287.4(GOSR2): c.336+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs141554661 GRCh37 Chromosome 17, 45009566: 45009566
6 GOSR2 NM_004287.4(GOSR2): c.336+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs141554661 GRCh38 Chromosome 17, 46932200: 46932200
7 GOSR2 NM_004287.4(GOSR2): c.430G> T (p.Gly144Trp) single nucleotide variant Pathogenic rs387906881 GRCh37 Chromosome 17, 45012488: 45012488
8 GOSR2 NM_004287.4(GOSR2): c.430G> T (p.Gly144Trp) single nucleotide variant Pathogenic rs387906881 GRCh38 Chromosome 17, 46935122: 46935122

Expression for Epilepsy, Progressive Myoclonic, 6

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 6.

Pathways for Epilepsy, Progressive Myoclonic, 6

GO Terms for Epilepsy, Progressive Myoclonic, 6

Cellular components related to Epilepsy, Progressive Myoclonic, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 8.62 GOSR2 LRRC37A2

Sources for Epilepsy, Progressive Myoclonic, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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