MCID: EPL210
MIFTS: 24

Epilepsy, Progressive Myoclonic, 6

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 6

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 6:

Name: Epilepsy, Progressive Myoclonic, 6 57 73
Epilepsy, Progressive Myoclonic 6 57 75 29 13 6
Epm6 57 59 75
Gosr2-Related Progressive Myoclonus Ataxia 59
North Sea Progressive Myoclonus Epilepsy 59
Epilepsy, Myoclonic, Progressive, Type 6 40
Progressive Myoclonic Epilepsy Type 6 59
Progressive Myoclonus Epilepsy Type 6 59
Pme Type 6 59

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
epilepsy, progressive myoclonic, 6:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic, 6

OMIM : 57 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 has symptoms including ataxia, seizures and drop attack. 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 : 75 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

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epilepsy, Progressive Myoclonic, 6:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 scoliosis 32 HP:0002650
5 elevated serum creatine phosphokinase 32 HP:0003236
6 myoclonus 32 HP:0001336
7 absence seizures 32 HP:0002121
8 areflexia 32 HP:0001284
9 difficulty walking 32 HP:0002355
10 atonic seizures 32 HP:0010819

UMLS symptoms related to Epilepsy, Progressive Myoclonic, 6:


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

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 29 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:

75
# 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.430G> T (p.Gly144Trp) single nucleotide variant Pathogenic rs387906881 GRCh37 Chromosome 17, 45012488: 45012488
2 GOSR2 NM_004287.4(GOSR2): c.430G> T (p.Gly144Trp) single nucleotide variant Pathogenic rs387906881 GRCh38 Chromosome 17, 46935122: 46935122
3 GOSR2 NM_004287.4(GOSR2): c.-12G> C single nucleotide variant Benign rs183199 GRCh37 Chromosome 17, 45000547: 45000547
4 GOSR2 NM_004287.4(GOSR2): c.-12G> C single nucleotide variant Benign rs183199 GRCh38 Chromosome 17, 46923181: 46923181
5 GOSR2 NM_004287.4(GOSR2): c.491_493delAGA (p.Lys164del) deletion Pathogenic rs863223401 GRCh37 Chromosome 17, 45015978: 45015980
6 GOSR2 NM_004287.4(GOSR2): c.491_493delAGA (p.Lys164del) deletion Pathogenic rs863223401 GRCh38 Chromosome 17, 46938612: 46938614
7 GOSR2 NM_004287.4(GOSR2): c.336+1G> A single nucleotide variant Pathogenic rs141554661 GRCh37 Chromosome 17, 45009566: 45009566
8 GOSR2 NM_004287.4(GOSR2): c.336+1G> A single nucleotide variant Pathogenic rs141554661 GRCh38 Chromosome 17, 46932200: 46932200

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

Sources for Epilepsy, Progressive Myoclonic, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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