EPM1
MCID: MYC080
MIFTS: 53

Myoclonic Epilepsy of Unverricht and Lundborg (EPM1)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonic Epilepsy of Unverricht and Lundborg

MalaCards integrated aliases for Myoclonic Epilepsy of Unverricht and Lundborg:

Name: Myoclonic Epilepsy of Unverricht and Lundborg 57 73 6
Progressive Myoclonic Epilepsy 57 20 58 36 29 6
Epilepsy, Progressive Myoclonic 1a 57 29 13 6
Epm1 57 25 73
Uld 57 25 73
Pme 57 58 6
Familial Progressive Myoclonic Epilepsy 20 71
Myoclonic Epilepsy, Progressive 57 6
Baltic Myoclonic Epilepsy 57 73
Epm1a 57 73
Progressive Myoclonic Epilepsy Unverricht-Lundborg Type 73
Epilepsy, Progressive Myoclonic, 1a; Epm1a 57
Epilepsy, Myoclonic, Progressive, Type 1a 39
Epilepsy, Progressive Myoclonic, 1; Epm1 57
Progressive Myoclonic Epilepsy Type 1 25
Epilepsy, Progressive Myoclonic, 1a 57
Progressive Myoclonic Epilepsy; Pme 57
Epilepsy, Progressive Myoclonic, 1 57
Epilepsy, Progressive Myoclonic 1 73
Progressive Myoclonic Epilepsy 1a 73
Myoclonic Epilepsies, Progressive 71
Progressive Myoclonic Epilepsy 1 73
Progressive Myoclonus Epilepsy 58
Epilepsy Progressive Myoclonic 74
Unverricht-Lundborg Syndrome 71
Unverricht-Lundborg Disease 25

Characteristics:

Orphanet epidemiological data:

58
progressive myoclonic epilepsy
Age of onset: Adolescent,Childhood,Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset 6-13 years
three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)
incidence of 1 in 20,000 live births
high frequency in finnish population


HPO:

31
myoclonic epilepsy, progressive:
Inheritance x-linked inheritance

myoclonic epilepsy of unverricht and lundborg:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 254800 310370
OMIM Phenotypic Series 57 PS254800
KEGG 36 H00810
MeSH 44 D020191
MESH via Orphanet 45 D020191
UMLS via Orphanet 72 C0751778
Orphanet 58 ORPHA98261
UMLS 71 C0751777 C0751778 C0751785

Summaries for Myoclonic Epilepsy of Unverricht and Lundborg

KEGG : 36 Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA), and type III Gaucher disease. Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF).

MalaCards based summary : Myoclonic Epilepsy of Unverricht and Lundborg, also known as progressive myoclonic epilepsy, is related to progressive myoclonus epilepsy 6 and prickle1-related progressive myoclonus epilepsy with ataxia, and has symptoms including ataxia and myoclonus. An important gene associated with Myoclonic Epilepsy of Unverricht and Lundborg is CSTB (Cystatin B). The drugs Brivaracetam and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are ataxia and dysarthria

GARD : 20 Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.

OMIM® : 57 Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Although it is considered a progressive myoclonic epilepsy, it differs from other forms in that is appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline (summary by Ramachandran et al., 2009). (254800) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Epilepsy, progressive myoclonic 1: An autosomal recessive disorder characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.

Wikipedia : 74 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

GeneReviews: NBK1142

Related Diseases for Myoclonic Epilepsy of Unverricht and Lundborg

Diseases related to Myoclonic Epilepsy of Unverricht and Lundborg via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 222)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy 6 31.9 GOSR2 EPM2A
2 prickle1-related progressive myoclonus epilepsy with ataxia 31.7 TBC1D24 PRICKLE1
3 progressive myoclonus epilepsy 4 31.5 SCARB2 PRICKLE1 CSTB
4 myoclonic epilepsy of lafora 31.2 EPM2A CSTB
5 unverricht-lundborg syndrome 30.0 TBC1D24 SCARB2 PRICKLE1 LOC109029533 GOSR2 FBXO30-DT
6 epilepsy, progressive myoclonic, 1b 29.7 TBC1D24 PRICKLE1
7 myoclonus epilepsy 29.4 PRICKLE1 LOC109029533 EPM2A CSTB
8 dentatorubral-pallidoluysian atrophy 29.3 SCARB2 GOSR2 FBXO30-DT EPM2A CSTB AGPAT3
9 myoclonus 29.1 SCARB2 PRICKLE1 LOC109029533 GOSR2 EPM2A CSTB
10 early myoclonic encephalopathy 28.6 TBC1D24 SLC7A6OS SCARB2 GOSR2 EPM2A CSTB
11 epilepsy 28.4 TBC1D24 SCARB2 PRICKLE1 LOC109029533 GOSR2 EPM2A
12 progressive myoclonus epilepsy 28.2 TBC1D24 SCARB2 PRICKLE1 LOC109029533 GOSR2 EPM2A
13 spinal muscular atrophy with progressive myoclonic epilepsy 12.0
14 epilepsy, progressive myoclonic, 8 11.6
15 progressive myoclonus epilepsy 10 11.5
16 epilepsy, progressive myoclonic, 9 11.5
17 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.4
18 spinal muscular atrophy 11.3
19 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
20 dystonia 11, myoclonic 11.3
21 developmental and epileptic encephalopathy 16 11.2
22 progressive myoclonus epilepsy 7 11.2
23 epilepsy progressive myoclonic type 3 11.2
24 progressive myoclonus epilepsy 3 11.2
25 progressive myoclonus epilepsy 9 11.2
26 progressive myoclonus epilepsy 8 11.2
27 progressive myoclonic epilepsy with neuroserpin inclusion bodies 11.2
28 ceroid lipofuscinosis, neuronal, 6 11.1
29 gaucher disease, type iii 11.1
30 encephalopathy, familial, with neuroserpin inclusion bodies 11.1
31 spastic ataxia 5, autosomal recessive 11.1
32 progressive myoclonus epilepsy 1a 11.0
33 epilepsy, progressive myoclonic, 4, with or without renal failure 10.9
34 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 10.9
35 epilepsy, progressive myoclonic, 6 10.9
36 epilepsy, progressive myoclonic 7 10.9
37 epilepsy, progressive myoclonic, 10 10.9
38 epilepsy, progressive myoclonic, 11 10.9
39 epilepsy, progressive myoclonic, 12 10.9
40 muscular atrophy 10.6
41 neuronal ceroid lipofuscinosis 10.5
42 gaucher's disease 10.4
43 status epilepticus 10.4
44 motor neuron disease 10.4
45 asah1-related disorders 10.4
46 farber lipogranulomatosis 10.3
47 ataxia and polyneuropathy, adult-onset 10.3
48 neuronal ceroid-lipofuscinoses 10.3
49 dystonia 10.3
50 encephalopathy 10.3

Graphical network of the top 20 diseases related to Myoclonic Epilepsy of Unverricht and Lundborg:



Diseases related to Myoclonic Epilepsy of Unverricht and Lundborg

Symptoms & Phenotypes for Myoclonic Epilepsy of Unverricht and Lundborg

Human phenotypes related to Myoclonic Epilepsy of Unverricht and Lundborg:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 dysarthria 31 HP:0001260
3 myoclonus 31 HP:0001336
4 mental deterioration 31 HP:0001268
5 bilateral tonic-clonic seizure 31 HP:0002069
6 generalized myoclonic seizure 31 HP:0002123
7 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
dysarthria
visual blackouts (stage 1)
eeg - polyspike on photic stimulation (stage 1)
stimulation sensitive segmental myoclonus (stage 2)
more

Clinical features from OMIM®:

254800 310370 (Updated 05-Mar-2021)

UMLS symptoms related to Myoclonic Epilepsy of Unverricht and Lundborg:


ataxia, myoclonus

MGI Mouse Phenotypes related to Myoclonic Epilepsy of Unverricht and Lundborg:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 ADSL CSTB PRICKLE1 SCARB2 TBC1D24
2 nervous system MP:0003631 9.17 ADSL AGPAT3 CSTB EPM2A PRICKLE1 SCARB2

Drugs & Therapeutics for Myoclonic Epilepsy of Unverricht and Lundborg

Drugs for Myoclonic Epilepsy of Unverricht and Lundborg (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
2 Pharmaceutical Solutions Phase 3
3 Immunologic Factors Phase 3
4 Immunoglobulins Phase 3
5 gamma-Globulins Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Antibodies Phase 3
8 Rho(D) Immune Globulin Phase 3
9 Anticonvulsants Phase 3
10
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
11
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
12 Dopamine agonists Phase 2
13 Dopamine Agents Phase 2
14 Neurotransmitter Agents Phase 2
15 Antiparkinson Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Unknown status NCT03351569 Phase 3 Intravenous immunoglobulin
2 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥ 16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
3 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
4 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole

Search NIH Clinical Center for Myoclonic Epilepsy of Unverricht and Lundborg

Genetic Tests for Myoclonic Epilepsy of Unverricht and Lundborg

Genetic tests related to Myoclonic Epilepsy of Unverricht and Lundborg:

# Genetic test Affiliating Genes
1 Progressive Myoclonic Epilepsy 29
2 Epilepsy, Progressive Myoclonic 1a (unverricht and Lundborg) 29

Anatomical Context for Myoclonic Epilepsy of Unverricht and Lundborg

MalaCards organs/tissues related to Myoclonic Epilepsy of Unverricht and Lundborg:

40
Brain, Skin, Bone, Cortex, Cerebellum, Spinal Cord, Thyroid

Publications for Myoclonic Epilepsy of Unverricht and Lundborg

Articles related to Myoclonic Epilepsy of Unverricht and Lundborg:

(show top 50) (show all 381)
# Title Authors PMID Year
1
Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats. 6 57
11571333 2001
2
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. 57 6
9090386 1997
3
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. 6 57
9054946 1997
4
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). 6 57
9012407 1997
5
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 57 6
8596935 1996
6
N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects. 25 57
12427904 2002
7
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. 57 25
9806543 1998
8
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. 57 25
9126745 1997
9
"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. 57 25
6137660 1983
10
Efficacy of levetiracetam in a patient with Unverricht-Lundborg progressive myoclonic epilepsy. 57 61
12707458 2003
11
A study of the late form (type Lundborg) of progressive myoclonic epilepsy. 57 61
4194907 1970
12
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 25 61
28378817 2017
13
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients. 61 25
27888502 2017
14
Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies. 25 61
26666500 2016
15
Loss of cortical GABA terminals in Unverricht-Lundborg disease. 61 25
22538221 2012
16
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6
21276947 2011
17
Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects. 57
20593193 2010
18
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 57
20548044 2010
19
The autosomal recessively inherited progressive myoclonus epilepsies and their genes. 57
19469843 2009
20
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 6
18976727 2008
21
Clinical picture of EPM1-Unverricht-Lundborg disease. 61 25
18325013 2008
22
Re: Fame 3: a novel form of progressive myoclonus and epilepsy. 57
18166714 2008
23
FAME 3: a novel form of progressive myoclonus and epilepsy. 57
17452583 2007
24
A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. 25 61
17188503 2007
25
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 6
15483648 2005
26
Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. 57
15623692 2004
27
Univerricht-Lundborg disease: underdiagnosed in the Netherlands. 6
15329070 2004
28
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. 57
12215838 2002
29
Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study. 57
12058102 2002
30
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes. 57
11555622 2001
31
N-acetylcysteine therapy for Unverricht-Lundborg disease. 57
9932979 1999
32
What is expanded in progressive myoclonus epilepsy? 6
9288090 1997
33
Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. 6
9342192 1997
34
Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. 57
8909441 1996
35
Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. 6
7543407 1995
36
Sweat gland vacuoles in Unverricht-Lundborg disease: a clue to diagnosis? 57
7991128 1994
37
PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus. 57
8005591 1994
38
Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs. 57
8232963 1993
39
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. 57
8104628 1993
40
Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. 57
1641151 1992
41
Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings. 57
1743164 1991
42
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. 57
1673790 1991
43
Classification of progressive myoclonus epilepsies and related disorders. Marseille Consensus Group. 57
2115761 1990
44
Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. 57
2155780 1990
45
Deficit of spinal cord glycine/strychnine receptors in inherited myoclonus of Poll Hereford calves. 57
2845573 1988
46
Assignment of LH XVI to chromosome 3 in the mouse. 57
6160178 1980
47
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. 57
109240 1979
48
[On genetics of progressive myoclonic epilepsies (Unverricht-Lundborg)]. 57
5868699 1965
49
Familial myoclonic epilepsy and its association with cerebellar disturbance. 57
13729348 1960
50
Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis. 57
13269595 1955

Variations for Myoclonic Epilepsy of Unverricht and Lundborg

ClinVar genetic disease variations for Myoclonic Epilepsy of Unverricht and Lundborg:

6 (show top 50) (show all 769)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRICKLE1 NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) SNV Pathogenic 30729 rs281865563 12:42862585-42862585 12:42468783-42468783
2 PRICKLE1 NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) SNV Pathogenic 30730 rs281865564 12:42858422-42858422 12:42464620-42464620
3 EPM2A NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) SNV Pathogenic 381553 rs781291421 6:145956604-145956604 6:145635468-145635468
4 EPM2A NC_000006.12:g.(?_145686102)_(145686316_?)del Deletion Pathogenic 462911 6:145686102-145686316
5 CSTB NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) SNV Pathogenic 575156 rs1569006250 21:45196087-45196087 21:43776206-43776206
6 CSTB NM_000100.3(CSTB):c.200_203dup (p.Val69fs) Duplication Pathogenic 659184 rs1601855887 21:45194176-45194177 21:43774295-43774296
7 GOSR2 NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) SNV Pathogenic 659698 rs1380954046 17:45008554-45008554 17:46931188-46931188
8 EPM2A NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) SNV Pathogenic 834981 6:145948713-145948713 6:145627577-145627577
9 FBXO30-DT NC_000006.12:g.(?_145625675)_(145735518_?)del Deletion Pathogenic 654665 6:145946811-146056654 6:145625675-145735518
10 SCARB2 NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) SNV Pathogenic 206709 rs200053119 4:77102169-77102169 4:76181016-76181016
11 GOSR2 NC_000017.11:g.(?_46923173)_(46940633_?)del Deletion Pathogenic 831185 17:45000539-45017999
12 GOSR2 NM_004287.5(GOSR2):c.262del (p.Gln88fs) Deletion Pathogenic 859319 17:45009490-45009490 17:46932124-46932124
13 EPM2A NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) SNV Pathogenic 862225 6:146056561-146056561 6:145735425-145735425
14 SCARB2 NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) Microsatellite Pathogenic 7377 rs727502773 4:77100846-77100847 4:76179693-76179694
15 EPM2A NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) Microsatellite Pathogenic 954222 6:146007369-146007370 6:145686233-145686234
16 EPM2A NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) Deletion Pathogenic 956069 6:146056517-146056517 6:145735381-145735381
17 SCARB2 NM_005506.4(SCARB2):c.956del (p.Leu319fs) Deletion Pathogenic 971806 4:77095335-77095335 4:76174182-76174182
18 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
19 CSTB NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) SNV Pathogenic 8397 rs74315443 21:45196141-45196141 21:43776260-43776260
20 LOC109029533 NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[(2_3)] Microsatellite Pathogenic 8398 21:45196360-45196371 21:43776479-43776490
21 CSTB CSTB, 2-BP DEL, 2404TC Deletion Pathogenic 8399
22 CSTB NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) SNV Pathogenic 8400 rs121909346 21:45194168-45194168 21:43774287-43774287
23 CSTB NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[(30_125)] Microsatellite Pathogenic 55956 21:45196349-45196360 21:43776468-43776479
24 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
25 CSTB NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) SNV Pathogenic 161419 rs312262708 21:45194558-45194558 21:43774677-43774677
26 CSTB NM_000100.4(CSTB):c.168+2_168+21delinsAA Indel Pathogenic 161421 rs864309482 21:45194518-45194537 21:43774637-43774656
27 CSTB NM_000100.3(CSTB):c.168+2_168+19del Deletion Pathogenic 161420 rs312262707 21:45194520-45194537 21:43774639-43774656
28 CSTB NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) SNV Pathogenic 161418 rs545986367 21:45194571-45194571 21:43774690-43774690
29 SCARB2 NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) Duplication Pathogenic 938927 4:77091130-77091131 4:76169977-76169978
30 EPM2A NC_000006.12:g.(?_145625675)_(145635506_?)del Deletion Pathogenic 830902 6:145946811-145956642
31 AGPAT3 NC_000021.8:g.(?_44838120)_(45629566_?)del Deletion Pathogenic 830406 21:44838120-45629566
32 ADSL NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) SNV Pathogenic 204815 rs756210458 22:40750270-40750270 22:40354266-40354266
33 ADSL NM_000026.4(ADSL):c.340T>C (p.Tyr114His) SNV Pathogenic 204807 rs374259530 22:40746022-40746022 22:40350018-40350018
34 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
35 CSTB NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) Microsatellite Pathogenic 55960 rs796943858 21:45194161-45194162 21:43774280-43774281
36 CSTB NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) SNV Pathogenic 161418 rs545986367 21:45194571-45194571 21:43774690-43774690
37 CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297
38 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) SNV Pathogenic 183157 rs765965968 16:2548334-2548334 16:2498333-2498333
39 EPM2A NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) SNV Pathogenic 3098 rs104893950 6:145948827-145948827 6:145627691-145627691
40 GOSR2 NM_004287.4(GOSR2):c.336+1G>A SNV Pathogenic 211092 rs141554661 17:45009566-45009566 17:46932200-46932200
41 GOSR2 NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) SNV Pathogenic 30406 rs387906881 17:45012488-45012488 17:46935122-46935122
42 EPM2A NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) SNV Pathogenic 462933 rs1387516050 6:145948803-145948803 6:145627667-145627667
43 CSTB NM_000100.3(CSTB):c.66G>A (p.Gln22=) SNV Pathogenic/Likely pathogenic 55961 rs386833443 21:45196085-45196085 21:43776204-43776204
44 CSTB NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) SNV Pathogenic/Likely pathogenic 55957 rs386833439 21:45194582-45194582 21:43774701-43774701
45 CSTB NM_000100.3(CSTB):c.168G>A (p.Lys56=) SNV Pathogenic/Likely pathogenic 55958 rs386833440 21:45194539-45194539 21:43774658-43774658
46 CSTB NM_000100.3(CSTB):c.169-2A>G SNV Pathogenic/Likely pathogenic 55959 rs386833441 21:45194213-45194213 21:43774332-43774332
47 PRICKLE1 NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) SNV Pathogenic/Likely pathogenic 2283 rs113994140 12:42863325-42863325 12:42469523-42469523
48 PRICKLE1 Deletion Likely pathogenic 243056 12:42870202-42899456 12:42476400-42505654
49 PRICKLE1 NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) SNV Likely pathogenic 982781 12:42866191-42866191 12:42472389-42472389
50 SLC7A6OS NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) SNV Likely pathogenic 973432 16:68344639-68344639 16:68310736-68310736

UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy of Unverricht and Lundborg:

73
# Symbol AA change Variation ID SNP ID
1 CSTB p.Gly4Arg VAR_002206 rs74315443

Expression for Myoclonic Epilepsy of Unverricht and Lundborg

Search GEO for disease gene expression data for Myoclonic Epilepsy of Unverricht and Lundborg.

Pathways for Myoclonic Epilepsy of Unverricht and Lundborg

GO Terms for Myoclonic Epilepsy of Unverricht and Lundborg

Cellular components related to Myoclonic Epilepsy of Unverricht and Lundborg according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.92 SCARB2 GOSR2 EPM2A AGPAT3

Sources for Myoclonic Epilepsy of Unverricht and Lundborg

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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