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 56 71
Epilepsy, Progressive Myoclonic 6 56 73 29 13 6
Epm6 56 58 73
Gosr2-Related Progressive Myoclonus Ataxia 58
North Sea Progressive Myoclonus Epilepsy 58
Epilepsy, Myoclonic, Progressive, Type 6 39
Progressive Myoclonus Epilepsy Type 6 58
Progressive Myoclonic Epilepsy Type 6 58
Pme Type 6 58

Characteristics:

Orphanet epidemiological data:

58
progressive myoclonic epilepsy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
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:

31
epilepsy, progressive myoclonic, 6:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic, 6

OMIM : 56 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 progressive myoclonus epilepsy 6 and progressive myoclonus 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 scoliosis and elevated serum creatine kinase

UniProtKB/Swiss-Prot : 73 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 elevated serum creatine kinase 31 HP:0003236
3 ataxia 31 HP:0001251
4 myoclonus 31 HP:0001336
5 tremor 31 HP:0001337
6 dysarthria 31 HP:0001260
7 areflexia 31 HP:0001284
8 difficulty walking 31 HP:0002355
9 atonic seizure 31 HP:0010819
10 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Laboratory Abnormalities:
increased serum creatine kinase (in some patients)

Neurologic Central Nervous System:
seizures
ataxia
dysarthria
areflexia
difficulty walking
more

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 29 GOSR2

Anatomical Context for Epilepsy, Progressive Myoclonic, 6

Publications for Epilepsy, Progressive Myoclonic, 6

Articles related to Epilepsy, Progressive Myoclonic, 6:

# Title Authors PMID Year
1
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene. 6 56
30363482 2015
2
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. 6 56
24458321 2014
3
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 6 56
21549339 2011
4
Effect of husk characters on resistance to corn earworm (Lepidoptera: Noctuidae) in high-maysin maize populations. 61
12539846 2002

Variations for Epilepsy, Progressive Myoclonic, 6

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GOSR2 NM_004287.5(GOSR2):c.485_487AGA[2] (p.Lys164del)short repeat Pathogenic 208982 rs863223401 17:45015972-45015974 17:46938606-46938608
2 GOSR2 NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)SNV Pathogenic 30406 rs387906881 17:45012488-45012488 17:46935122-46935122
3 GOSR2 NM_004287.4(GOSR2):c.336+1G>ASNV Pathogenic/Likely pathogenic 211092 rs141554661 17:45009566-45009566 17:46932200-46932200
4 GOSR2 NM_004287.4(GOSR2):c.336+9G>ASNV Conflicting interpretations of pathogenicity 323823 rs200210055 17:45009574-45009574 17:46932208-46932208
5 GOSR2 NM_004287.4(GOSR2):c.29+13C>TSNV Conflicting interpretations of pathogenicity 323821 rs747791818 17:45000600-45000600 17:46923234-46923234
6 GOSR2 NM_004287.4(GOSR2):c.29+8C>TSNV Conflicting interpretations of pathogenicity 137489 rs573306680 17:45000595-45000595 17:46923229-46923229
7 GOSR2 NM_004287.5(GOSR2):c.94+7A>CSNV Conflicting interpretations of pathogenicity 695955 17:45006957-45006957 17:46929591-46929591
8 GOSR2 NM_004287.5(GOSR2):c.-12G>CSNV Benign 193275 rs183199 17:45000547-45000547 17:46923181-46923181

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

73
# Symbol AA change Variation ID SNP ID
1 GOSR2 p.Gly144Trp VAR_065833 rs387906881

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
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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