EPM1
MCID: MYC080
MIFTS: 44

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 75
Progressive Myoclonic Epilepsy 57 53 37 29 6
Epilepsy, Progressive Myoclonic 1a 57 13 6
Familial Progressive Myoclonic Epilepsy 53 73
Baltic Myoclonic Epilepsy 57 75
Epm1a 57 75
Epm1 57 75
Uld 57 75
Progressive Myoclonic Epilepsy Unverricht-Lundborg Type 75
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 75
Progressive Myoclonic Epilepsy 1a 75
Myoclonic Epilepsies, Progressive 73
Progressive Myoclonic Epilepsy 1 75
Myoclonic Epilepsy, Progressive 57
Epilepsy Progressive Myoclonic 76
Unverricht-Lundborg Syndrome 73
Pme 57

Characteristics:

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:



Summaries for Myoclonic Epilepsy of Unverricht and Lundborg

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.

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 Soy Bean and Brivaracetam have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are ataxia and dysarthria

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 : 75 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 : 76 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 all 50)
# Related Disease Score Top Affiliating Genes
1 unverricht-lundborg syndrome 32.1 SCARB2 EPM2A CSTB
2 myoclonic epilepsy of lafora 31.3 EPM2A CSTB
3 early myoclonic encephalopathy 30.0 EPM2A CSTB
4 myoclonus 29.9 SCARB2 EPM2A CSTB
5 myoclonus epilepsy 29.7 SCARB2 EPM2A CSTB
6 epilepsy 29.2 SCARB2 GOSR2 EPM2A CSTB
7 progressive myoclonus epilepsy 29.2 SCARB2 GOSR2 EPM2A CSTB
8 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
9 epilepsy, progressive myoclonic, 1b 12.5
10 progressive myoclonic epilepsy type 5 12.2
11 epilepsy, progressive myoclonic, 8 11.9
12 epilepsy, progressive myoclonic, 9 11.9
13 progressive myoclonus epilepsy, lafora type 11.8
14 spinal muscular atrophy 11.6
15 prickle1-related progressive myoclonus epilepsy with ataxia 11.4
16 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
17 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.2
18 epileptic encephalopathy, early infantile, 16 11.2
19 epilepsy progressive myoclonic type 3 11.2
20 gosr2-related progressive myoclonus ataxia 11.2
21 gaucher disease, type iii 11.1
22 encephalopathy, familial, with neuroserpin inclusion bodies 11.1
23 spastic ataxia 5, autosomal recessive 11.1
24 epilepsy, progressive myoclonic, 4, with or without renal failure 11.0
25 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.0
26 epilepsy, progressive myoclonic, 6 11.0
27 epilepsy, progressive myoclonic 7 11.0
28 epilepsy, progressive myoclonic, 10 11.0
29 muscular atrophy 10.5
30 gaucher's disease 10.2
31 retinitis pigmentosa 10.1
32 leber congenital amaurosis 4 10.1
33 retinitis 10.1
34 supranuclear ocular palsy 10.1
35 farber lipogranulomatosis 10.0
36 proximal spinal muscular atrophy 10.0
37 dentatorubral-pallidoluysian atrophy 10.0
38 myoclonus and ataxia 10.0
39 down syndrome 10.0
40 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0
41 leigh syndrome 10.0
42 lennox-gastaut syndrome 10.0
43 leukodystrophy 10.0
44 fanconi syndrome 10.0
45 nephrotic syndrome 10.0
46 dementia 10.0
47 status epilepticus 10.0
48 infantile epileptic encephalopathy 10.0
49 dystonia 10.0
50 benign epilepsy with centrotemporal spikes 9.8 EPM2A CSTB

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

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

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 seizures 32 HP:0002121
7 mental deterioration 32 HP:0001268

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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Phase 4
2
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
3 Anticonvulsants Phase 3
4 Pharmaceutical Solutions Phase 3,Not Applicable
5 Immunoglobulins Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Immunologic Factors Phase 3
8 gamma-Globulins Phase 3
9 Rho(D) Immune Globulin Phase 3
10 Antibodies Phase 3
11
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
12
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 497540 5095
13 Antiparkinson Agents Phase 2
14 Dopamine agonists Phase 2
15 Dopamine Agents Phase 2
16 Neurotransmitter Agents Phase 2
17
Acetylcysteine Approved, Investigational Not Applicable 616-91-1 12035
18
Serine Approved, Nutraceutical 56-45-1 5951
19 Antiviral Agents Not Applicable
20 Expectorants Not Applicable
21 Antioxidants Not Applicable
22 Respiratory System Agents Not Applicable
23 Antidotes Not Applicable
24 Free Radical Scavengers Not Applicable
25 Anti-Infective Agents Not Applicable
26 N-monoacetylcystine Not Applicable
27 Protective Agents Not Applicable
28 Serine Proteinase Inhibitors
29 HIV Protease Inhibitors
30
protease inhibitors
31 Neuroserpin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Soy Polysaccharide Fiber for the Treatment of Chronic Constipation in Children: a Randomized, Double-blind Trial Completed NCT01267370 Phase 4
2 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
3 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
4 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. 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 Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute Injury Completed NCT01612013 Not Applicable Sodium bicarbonate plus saline;Intravenous NAC plus saline;NAC plus sodium bicarbonate plus saline;Saline;NAC plus saline;NAC plus sodium bicarbonate plus saline
7 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176

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

Anatomical Context for Myoclonic Epilepsy of Unverricht and Lundborg

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

41
Skin, Brain, Bone, Thalamus

Publications for Myoclonic Epilepsy of Unverricht and Lundborg

Articles related to Myoclonic Epilepsy of Unverricht and Lundborg:

(show top 50) (show all 88)
# Title Authors Year
1
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
2
Response to the paper titled "Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy". ( 30254444 )
2018
3
Utility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Answer. ( 30124485 )
2018
4
Utility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Challenge. ( 28692462 )
2018
5
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. ( 29352102 )
2018
6
Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. ( 29428275 )
2018
7
Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report. ( 29642155 )
2018
8
Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation. ( 29899791 )
2018
9
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy. ( 28631894 )
2017
10
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
11
Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy. ( 29089769 )
2017
12
Startle Response in Progressive Myoclonic Epilepsy. ( 27170668 )
2017
13
A Quandary of Cuprum - Wilson's Disease Disguising as Progressive Myoclonic Epilepsy. ( 28168129 )
2017
14
Neurophysiological and BOLD signal uncoupling of giant somatosensory evoked potentials in progressive myoclonic epilepsy: a case-series study. ( 28294187 )
2017
15
Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology. ( 29237663 )
2017
16
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
17
Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA. ( 26857957 )
2016
18
Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy - Case report. ( 27293345 )
2016
19
Genetics of Lafora progressive myoclonic epilepsy: current perspectives. ( 27194917 )
2016
20
Progressive myoclonic epilepsy with Fanconi syndrome. ( 27293772 )
2016
21
Spinal muscular atrophy associated with progressive myoclonic epilepsy. ( 27647482 )
2016
22
Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy. ( 25828483 )
2016
23
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. ( 27723502 )
2016
24
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. ( 25847462 )
2015
25
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. ( 26526000 )
2015
26
Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease. ( 25416783 )
2015
27
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1. ( 25578555 )
2015
28
Retinitis pigmentosa in Lafora disease: expanding findings of progressive myoclonic epilepsy. ( 26391413 )
2015
29
Has Progress Been Made in Progressive Myoclonic Epilepsy (EPM1)? ( 26448727 )
2015
30
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. ( 25361775 )
2014
31
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. ( 24671628 )
2014
32
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy. ( 25079578 )
2014
33
Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. ( 25356388 )
2014
34
Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review. ( 25667885 )
2014
35
Efficacy of topiramate as add-on therapy in two different types of progressive myoclonic epilepsy. ( 23909054 )
2013
36
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. ( 24164096 )
2013
37
Horizontal gaze palsy with progressive myoclonic epilepsy: rare presentation of Gaucher's disease. ( 23644323 )
2013
38
3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1. ( 23922849 )
2013
39
Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease). ( 25667843 )
2013
40
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. ( 22606975 )
2012
41
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. ( 22703880 )
2012
42
Clinical utility of vagus nerve stimulation for progressive myoclonic epilepsy. ( 22999567 )
2012
43
Chronic high-frequency deep-brain stimulation in progressive myoclonic epilepsy in adulthood--report of five cases. ( 21219312 )
2011
44
Highly focal BOLD activation on functional MRI in a patient with progressive myoclonic epilepsy and diffuse giant somatosensory evoked potentials. ( 21339087 )
2011
45
Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. ( 21710140 )
2011
46
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. ( 20019223 )
2010
47
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. ( 21087195 )
2010
48
Progressive myoclonic epilepsy. ( 20739785 )
2010
49
Role of levetiracetam in refractory seizures due to a rare progressive myoclonic epilepsy: Lafora body disease. ( 22791845 )
2010
50
A prickly cause of progressive myoclonic epilepsy. ( 19250377 )
2009

Variations for Myoclonic Epilepsy of Unverricht and Lundborg

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

75
# Symbol AA change Variation ID SNP ID
1 CSTB p.Gly4Arg VAR_002206 rs74315443

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

6 (show top 50) (show all 775)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh37 Chromosome 6, 145948827: 145948827
2 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh38 Chromosome 6, 145627691: 145627691
3 EPM2A NM_005670.3(EPM2A): c.512G> A (p.Arg171His) single nucleotide variant Uncertain significance rs137852916 GRCh37 Chromosome 6, 145956587: 145956587
4 EPM2A NM_005670.3(EPM2A): c.512G> A (p.Arg171His) single nucleotide variant Uncertain significance rs137852916 GRCh38 Chromosome 6, 145635451: 145635451
5 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs147484110 GRCh37 Chromosome 21, 45194641: 45194641
6 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs147484110 GRCh38 Chromosome 21, 43774760: 43774760
7 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
8 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297
9 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh37 Chromosome 21, 45196141: 45196141
10 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh38 Chromosome 21, 43776260: 43776260
11 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh37 Chromosome 21, 45196360: 45196371
12 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh38 Chromosome 21, 43776479: 43776490
13 CSTB CSTB, 2-BP DEL, 2404TC deletion Pathogenic
14 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh37 Chromosome 21, 45194168: 45194168
15 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh38 Chromosome 21, 43774287: 43774287
16 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh37 Chromosome 21, 45196349: 45196360
17 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh38 Chromosome 21, 43776468: 43776479
18 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh37 Chromosome 21, 45194582: 45194582
19 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh38 Chromosome 21, 43774701: 43774701
20 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh37 Chromosome 21, 45194539: 45194539
21 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh38 Chromosome 21, 43774658: 43774658
22 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh37 Chromosome 21, 45194213: 45194213
23 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh38 Chromosome 21, 43774332: 43774332
24 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh37 Chromosome 21, 45194161: 45194162
25 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh38 Chromosome 21, 43774280: 43774281
26 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh37 Chromosome 21, 45196085: 45196085
27 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh38 Chromosome 21, 43776204: 43776204
28 CSTB NM_000100.3(CSTB): c.15G> T (p.Ala5=) single nucleotide variant Benign/Likely benign rs4533 GRCh37 Chromosome 21, 45196136: 45196136
29 CSTB NM_000100.3(CSTB): c.15G> T (p.Ala5=) single nucleotide variant Benign/Likely benign rs4533 GRCh38 Chromosome 21, 43776255: 43776255
30 EPM2A NM_005670.3(EPM2A): c.163C> A (p.Gln55Lys) single nucleotide variant Benign rs187930476 GRCh37 Chromosome 6, 146056472: 146056472
31 EPM2A NM_005670.3(EPM2A): c.163C> A (p.Gln55Lys) single nucleotide variant Benign rs187930476 GRCh38 Chromosome 6, 145735336: 145735336
32 EPM2A NM_005670.3(EPM2A): c.393G> A (p.Glu131=) single nucleotide variant Benign/Likely benign rs61758155 GRCh37 Chromosome 6, 146007341: 146007341
33 EPM2A NM_005670.3(EPM2A): c.393G> A (p.Glu131=) single nucleotide variant Benign/Likely benign rs61758155 GRCh38 Chromosome 6, 145686205: 145686205
34 EPM2A NM_005670.3(EPM2A): c.719-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145030227 GRCh37 Chromosome 6, 145948833: 145948833
35 EPM2A NM_005670.3(EPM2A): c.719-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145030227 GRCh38 Chromosome 6, 145627697: 145627697
36 GOSR2 NM_004287.4(GOSR2): c.200G> A (p.Arg67Lys) single nucleotide variant Benign rs197922 GRCh37 Chromosome 17, 45008570: 45008570
37 GOSR2 NM_004287.4(GOSR2): c.200G> A (p.Arg67Lys) single nucleotide variant Benign rs197922 GRCh38 Chromosome 17, 46931204: 46931204
38 KCTD7 NM_153033.4(KCTD7): c.267G> A (p.Thr89=) single nucleotide variant Benign/Likely benign rs3764904 GRCh37 Chromosome 7, 66098384: 66098384
39 KCTD7 NM_153033.4(KCTD7): c.267G> A (p.Thr89=) single nucleotide variant Benign/Likely benign rs3764904 GRCh38 Chromosome 7, 66633397: 66633397
40 KCTD7 NM_153033.4(KCTD7): c.654C> T (p.Asp218=) single nucleotide variant Benign/Likely benign rs117194263 GRCh37 Chromosome 7, 66104003: 66104003
41 KCTD7 NM_153033.4(KCTD7): c.654C> T (p.Asp218=) single nucleotide variant Benign/Likely benign rs117194263 GRCh38 Chromosome 7, 66639016: 66639016
42 PRICKLE2 NM_198859.3(PRICKLE2): c.1551G> A (p.Gln517=) single nucleotide variant Benign/Likely benign rs116353694 GRCh37 Chromosome 3, 64132615: 64132615
43 PRICKLE2 NM_198859.3(PRICKLE2): c.1551G> A (p.Gln517=) single nucleotide variant Benign/Likely benign rs116353694 GRCh38 Chromosome 3, 64146939: 64146939
44 PRICKLE2 NM_198859.3(PRICKLE2): c.259-6A> G single nucleotide variant Benign rs2306380 GRCh37 Chromosome 3, 64145759: 64145759
45 PRICKLE2 NM_198859.3(PRICKLE2): c.259-6A> G single nucleotide variant Benign rs2306380 GRCh38 Chromosome 3, 64160083: 64160083
46 PRICKLE2 NM_198859.3(PRICKLE2): c.579G> A (p.Pro193=) single nucleotide variant Benign rs17720698 GRCh37 Chromosome 3, 64142859: 64142859
47 PRICKLE2 NM_198859.3(PRICKLE2): c.579G> A (p.Pro193=) single nucleotide variant Benign rs17720698 GRCh38 Chromosome 3, 64157183: 64157183
48 PRICKLE2 NM_198859.3(PRICKLE2): c.984C> T (p.Asn328=) single nucleotide variant Likely benign rs34460293 GRCh37 Chromosome 3, 64133182: 64133182
49 PRICKLE2 NM_198859.3(PRICKLE2): c.984C> T (p.Asn328=) single nucleotide variant Likely benign rs34460293 GRCh38 Chromosome 3, 64147506: 64147506
50 PRICKLE2 NM_198859.3(PRICKLE2): c.816T> C (p.Asp272=) single nucleotide variant Benign rs27673 GRCh37 Chromosome 3, 64133350: 64133350

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 EPM2A GOSR2 SCARB2
2 late endosome membrane GO:0031902 8.62 GOSR2 SCARB2

Sources for Myoclonic Epilepsy of Unverricht and Lundborg

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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
Content
Loading form....