EPM1
MCID: MYC080
MIFTS: 52

Myoclonic Epilepsy of Unverricht and Lundborg (EPM1)

Categories: Genetic diseases, Mental 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 74
Progressive Myoclonic Epilepsy 57 53 59 37 29 6
Epilepsy, Progressive Myoclonic 1a 57 29 13 6
Familial Progressive Myoclonic Epilepsy 53 72
Baltic Myoclonic Epilepsy 57 74
Epm1a 57 74
Epm1 57 74
Uld 57 74
Pme 57 59
Progressive Myoclonic Epilepsy Unverricht-Lundborg Type 74
Epilepsy, Progressive Myoclonic, 1a; Epm1a 57
Epilepsy, Myoclonic, Progressive, Type 1a 40
Epilepsy, Progressive Myoclonic, 1; Epm1 57
Epilepsy, Progressive Myoclonic, 1a 57
Progressive Myoclonic Epilepsy; Pme 57
Epilepsy, Progressive Myoclonic, 1 57
Epilepsy, Progressive Myoclonic 1 74
Progressive Myoclonic Epilepsy 1a 74
Myoclonic Epilepsies, Progressive 72
Progressive Myoclonic Epilepsy 1 74
Myoclonic Epilepsy, Progressive 57
Progressive Myoclonus Epilepsy 59
Epilepsy Progressive Myoclonic 75
Unverricht-Lundborg Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy
Age of onset: Adolescent,Childhood,Infancy,Neonatal;

OMIM:

57
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:

32
myoclonic epilepsy, progressive:
Inheritance x-linked inheritance

myoclonic epilepsy of unverricht and lundborg:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

KEGG 37 H00810
MeSH 44 D020191
MESH via Orphanet 45 D020191
UMLS via Orphanet 73 C0751778
Orphanet 59 ORPHA98261
UMLS 72 C0751777 C0751778 C0751785

Summaries for Myoclonic Epilepsy of Unverricht and Lundborg

KEGG : 37
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 unverricht-lundborg syndrome and myoclonic epilepsy of lafora, 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 Zonisamide have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are ataxia and dysarthria

NIH Rare Diseases : 53 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)

UniProtKB/Swiss-Prot : 74 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 : 75 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

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 190)
# Related Disease Score Top Affiliating Genes
1 unverricht-lundborg syndrome 31.7 SCARB2 EPM2A CSTB
2 myoclonic epilepsy of lafora 31.3 EPM2A CSTB
3 early myoclonic encephalopathy 30.0 EPM2A CSTB
4 myoclonus 29.5 SCARB2 EPM2A CSTB
5 myoclonus epilepsy 29.3 SCARB2 EPM2A CSTB
6 epilepsy 28.6 SCARB2 GOSR2 EPM2A CSTB
7 progressive myoclonus epilepsy 28.2 SCARB2 GOSR2 EPM2A CSTB
8 spinal muscular atrophy with progressive myoclonic epilepsy 12.9
9 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.4
10 epilepsy, progressive myoclonic, 8 12.2
11 epilepsy, progressive myoclonic, 9 12.0
12 spinal muscular atrophy 11.8
13 epilepsy, progressive myoclonic, 1b 11.7
14 epileptic encephalopathy, early infantile, 16 11.7
15 gosr2-related progressive myoclonus ataxia 11.7
16 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.7
17 ceroid lipofuscinosis, neuronal, 6 11.6
18 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.6
19 prickle1-related progressive myoclonus epilepsy with ataxia 11.6
20 epilepsy progressive myoclonic type 3 11.4
21 gaucher disease, type iii 11.2
22 encephalopathy, familial, with neuroserpin inclusion bodies 11.2
23 spastic ataxia 5, autosomal recessive 11.2
24 epilepsy, progressive myoclonic, 4, with or without renal failure 11.2
25 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.2
26 epilepsy, progressive myoclonic, 6 11.2
27 epilepsy, progressive myoclonic 7 11.2
28 epilepsy, progressive myoclonic, 10 11.2
29 ataxia and polyneuropathy, adult-onset 10.6
30 muscular atrophy 10.5
31 autosomal recessive disease 10.5
32 neuronal ceroid lipofuscinosis 10.5
33 gaucher's disease 10.4
34 tremor 10.4
35 visual epilepsy 10.3
36 motor neuron disease 10.3
37 asah1-related disorders 10.3
38 seizure disorder 10.3
39 dentatorubral-pallidoluysian atrophy 10.3
40 status epilepticus 10.3
41 farber lipogranulomatosis 10.3
42 myoclonic epilepsy associated with ragged-red fibers 10.3
43 neuronal ceroid-lipofuscinoses 10.3
44 neuroblastoma 1 10.2
45 aceruloplasminemia 10.2
46 ceroid lipofuscinosis, neuronal, 3 10.2
47 scoliosis 10.2
48 dementia 10.2
49 glycogen storage disease 10.2
50 mitochondrial encephalomyopathy 10.2

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 dysarthria 32 HP:0001260
3 generalized myoclonic seizures 32 HP:0002123
4 myoclonus 32 HP:0001336
5 generalized tonic-clonic seizures 32 HP:0002069
6 absence seizure 32 HP:0002121
7 mental deterioration 32 HP:0001268

Symptoms via clinical synopsis from OMIM:

57
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

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 behavior/neurological MP:0005386 8.92 CSTB EPM2A GOSR2 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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
2
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Anticonvulsants Phase 3
5 Hormones Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Antibodies Phase 3
9 Immunologic Factors Phase 3
10 gamma-Globulins Phase 3
11 Immunoglobulins Phase 3
12 Pharmaceutical Solutions Phase 3
13 Immunoglobulins, Intravenous Phase 3
14 Rho(D) Immune Globulin Phase 3
15
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
16
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 5095 497540
17 Neurotransmitter Agents Phase 2
18 Dopamine Agents Phase 2
19 Dopamine agonists Phase 2
20 Antiparkinson Agents Phase 2
21
Serine Approved, Nutraceutical 56-45-1 5951
22 Serpins
23 HIV Protease Inhibitors
24 Serine Proteinase Inhibitors
25 Neuroserpin
26
protease inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
4 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
5 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
6 Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies Completed NCT00006176
7 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

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:

41
Brain, Skin, Bone, Cortex, Spinal Cord, Thyroid, Globus Pallidus

Publications for Myoclonic Epilepsy of Unverricht and Lundborg

Articles related to Myoclonic Epilepsy of Unverricht and Lundborg:

(show top 50) (show all 331)
# Title Authors PMID Year
1
Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats. 8 71
11571333 2001
2
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. 8 71
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. 8 71
9054946 1997
4
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). 8 71
9012407 1997
5
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 8 71
8596935 1996
6
Efficacy of levetiracetam in a patient with Unverricht-Lundborg progressive myoclonic epilepsy. 38 8
12707458 2003
7
A study of the late form (type Lundborg) of progressive myoclonic epilepsy. 38 8
4194907 1970
8
Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects. 8
20593193 2010
9
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 8
20548044 2010
10
The autosomal recessively inherited progressive myoclonus epilepsies and their genes. 8
19469843 2009
11
Re: Fame 3: a novel form of progressive myoclonus and epilepsy. 8
18166714 2008
12
FAME 3: a novel form of progressive myoclonus and epilepsy. 8
17452583 2007
13
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 71
15483648 2005
14
Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. 8
15623692 2004
15
Univerricht-Lundborg disease: underdiagnosed in the Netherlands. 71
15329070 2004
16
Unverricht-Lundborg Disease 71
20301321 2004
17
N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects. 8
12427904 2002
18
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. 8
12215838 2002
19
Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study. 8
12058102 2002
20
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes. 8
11555622 2001
21
N-acetylcysteine therapy for Unverricht-Lundborg disease. 8
9932979 1999
22
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. 8
9806543 1998
23
What is expanded in progressive myoclonus epilepsy? 71
9288090 1997
24
Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. 71
9342192 1997
25
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. 8
9126745 1997
26
Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. 8
8909441 1996
27
Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. 71
7543407 1995
28
Sweat gland vacuoles in Unverricht-Lundborg disease: a clue to diagnosis? 8
7991128 1994
29
PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus. 8
8005591 1994
30
Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs. 8
8232963 1993
31
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. 8
8104628 1993
32
Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. 8
1641151 1992
33
Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings. 8
1743164 1991
34
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. 8
1673790 1991
35
Classification of progressive myoclonus epilepsies and related disorders. Marseille Consensus Group. 8
2115761 1990
36
Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. 8
2155780 1990
37
Deficit of spinal cord glycine/strychnine receptors in inherited myoclonus of Poll Hereford calves. 8
2845573 1988
38
"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. 8
6137660 1983
39
Assignment of LH XVI to chromosome 3 in the mouse. 8
6160178 1980
40
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. 8
109240 1979
41
[On genetics of progressive myoclonic epilepsies (Unverricht-Lundborg)]. 8
5868699 1965
42
Familial myoclonic epilepsy and its association with cerebellar disturbance. 8
13729348 1960
43
Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis. 8
13269595 1955
44
Familial degeneration of the cerebral gray matter in childhood with convulsions, myoclonus, spasticity, cerebellar ataxia, choreoathetosis, dementia, and death in status epilepticus; differentiation of infantile and juvenile types. 8
14851183 1951
45
Hereditary myoclonus epilepsy; two cases with pathological findings. 8
18128978 1949
46
Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function. 38
31175897 2019
47
Total Corpus Callosotomy for Medically Refractory Status Epilepticus Due to Progressive Myoclonic Epilepsy: A Clinically Challenging Case. 38
31042603 2019
48
Selective deep brain stimulation in the substantia nigra reduces myoclonus in progressive myoclonic epilepsy: a novel observation and short review of the literature. 38
31225807 2019
49
Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy. 38
30825425 2019
50
[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]. 38
31216804 2019

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 425)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EPM2A NC_000006.11: g.(?_146007238)_(146007452_?)del deletion Pathogenic
2 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 21:45194178-45194178 21:43774297-43774297
3 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 21:45196141-45196141 21:43776260-43776260
4 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic 21:45196360-45196371 21:43776479-43776490
5 CSTB CSTB, 2-BP DEL, 2404TC deletion Pathogenic
6 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 21:45194168-45194168 21:43774287-43774287
7 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic 21:45196349-45196360 21:43776468-43776479
8 EPM2A NM_005670.4(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 6:145948827-145948827 6:145627691-145627691
9 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 21:45194518-45194537 21:43774637-43774656
10 CSTB NM_000100.3(CSTB): c.168+2_168+19del deletion Pathogenic rs312262707 21:45194521-45194538 21:43774640-43774657
11 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 21:45194558-45194558 21:43774677-43774677
12 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 21:45194571-45194571 21:43774690-43774690
13 CSTB NM_000100.3(CSTB): c.64C> T (p.Gln22Ter) single nucleotide variant Pathogenic 21:45196087-45196087 21:43776206-43776206
14 GOSR2 NM_004287.4(GOSR2): c.184A> T (p.Lys62Ter) single nucleotide variant Pathogenic 17:45008554-45008554 17:46931188-46931188
15 CSTB NM_000100.3(CSTB): c.200_203dup (p.Val69fs) duplication Pathogenic 21:45194176-45194177 21:43774296-43774299
16 EPM2A NC_000006.11: g.(?_145946811)_(146056654_?)del deletion Pathogenic 6:145946811-146056654 6:145625675-145735518
17 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs147484110 21:45194641-45194641 21:43774760-43774760
18 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 21:45194582-45194582 21:43774701-43774701
19 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 21:45194539-45194539 21:43774658-43774658
20 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 21:45194213-45194213 21:43774332-43774332
21 CSTB NM_000100.3(CSTB): c.214_215TC[2] (p.Leu73fs) short repeat Pathogenic/Likely pathogenic rs796943858 21:45194161-45194162 21:43774280-43774281
22 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 21:45196085-45196085 21:43776204-43776204
23 EPM2A NM_005670.4(EPM2A): c.495G> A (p.Trp165Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781291421 6:145956604-145956604 6:145635468-145635468
24 SCARB2 NM_005506.4(SCARB2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200053119 4:77102169-77102169 4:76181016-76181016
25 GOSR2 NM_004287.4(GOSR2): c.336+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs141554661 17:45009566-45009566 17:46932200-46932200
26 CSTB NM_000100.3(CSTB): c.10G> T (p.Gly4Trp) single nucleotide variant Likely pathogenic rs74315443 21:45196141-45196141 21:43776260-43776260
27 GOSR2 NM_004287.4(GOSR2): c.337-2A> G single nucleotide variant Likely pathogenic 17:45012393-45012393 17:46935027-46935027
28 GOSR2 NM_004287.4(GOSR2): c.*18G> T single nucleotide variant Conflicting interpretations of pathogenicity rs778066395 17:45016144-45016144 17:46938778-46938778
29 GOSR2 NM_004287.4(GOSR2): c.336+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200210055 17:45009574-45009574 17:46932208-46932208
30 CSTB NM_000100.3(CSTB): c.1_2insAT (p.Met1fs) insertion Conflicting interpretations of pathogenicity rs1044894207 21:45196149-45196150 21:43776268-43776269
31 GOSR2 NM_004287.4(GOSR2): c.203+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201423456 17:45008576-45008576 17:46931210-46931210
32 SCARB2 NM_005506.4(SCARB2): c.1194G> A (p.Thr398=) single nucleotide variant Conflicting interpretations of pathogenicity rs574498998 4:77087448-77087448 4:76166295-76166295
33 GOSR2 NM_004287.4(GOSR2): c.29+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs747791818 17:45000600-45000600 17:46923234-46923234
34 GOSR2 NM_004287.4(GOSR2): c.246T> C (p.Thr82=) single nucleotide variant Conflicting interpretations of pathogenicity rs141380070 17:45009475-45009475 17:46932109-46932109
35 CSTB NM_000100.3(CSTB): c.-42C> T single nucleotide variant Conflicting interpretations of pathogenicity rs776181852 21:45196192-45196192 21:43776311-43776311
36 SCARB2 NM_005506.4(SCARB2): c.424-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368869126 4:77100862-77100862 4:76179709-76179709
37 GOSR2 NM_004287.4(GOSR2): c.447T> C (p.Asp149=) single nucleotide variant Conflicting interpretations of pathogenicity rs750298260 17:45012505-45012505 17:46935139-46935139
38 SCARB2 NM_005506.4(SCARB2): c.9A> G (p.Arg3=) single nucleotide variant Conflicting interpretations of pathogenicity rs148558907 4:77134688-77134688 4:76213535-76213535
39 CSTB NM_000100.3(CSTB): c.121G> A (p.Val41Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143153487 21:45194586-45194586 21:43774705-43774705
40 EPM2A NM_005670.4(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 6:146007358-146007358 6:145686222-145686222
41 GOSR2 NM_004287.4(GOSR2): c.29+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs573306680 17:45000595-45000595 17:46923229-46923229
42 KCTD7 NM_153033.4(KCTD7): c.-49C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374505432 7:66094003-66094003 7:66629016-66629016
43 KCTD7 NM_153033.4(KCTD7): c.384G> A (p.Glu128=) single nucleotide variant Conflicting interpretations of pathogenicity rs145238250 7:66103309-66103309 7:66638322-66638322
44 CSTB NM_000100.3(CSTB): c.67-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs6383 21:45194643-45194643 21:43774762-43774762
45 EPM2A NM_005670.4(EPM2A): c.24G> A (p.Val8=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780938 6:146056611-146056611 6:145735475-145735475
46 EPM2A NM_005670.4(EPM2A): c.129C> G (p.Ala43=) single nucleotide variant Conflicting interpretations of pathogenicity rs547147183 6:146056506-146056506 6:145735370-145735370
47 CSTB NM_000100.3(CSTB): c.193G> A (p.Val65Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs570768038 21:45194187-45194187 21:43774306-43774306
48 SCARB2 NM_005506.4(SCARB2): c.445G> A (p.Val149Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147159813 4:77100837-77100837 4:76179684-76179684
49 KCTD7 NM_153033.4(KCTD7): c.273C> T (p.Ser91=) single nucleotide variant Conflicting interpretations of pathogenicity rs139585796 7:66098390-66098390 7:66633403-66633403
50 GOSR2 NM_004287.4(GOSR2): c.40G> A (p.Glu14Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs113817924 17:45006896-45006896 17:46929530-46929530

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

74
# 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 9.13 SCARB2 GOSR2 EPM2A
2 late endosome membrane GO:0031902 8.62 SCARB2 GOSR2

Sources for Myoclonic Epilepsy of Unverricht and Lundborg

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