MCID: MYC080
MIFTS: 39

Myoclonic Epilepsy of Unverricht and Lundborg

Categories: Genetic 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 progressive myoclonus epilepsy, and has symptoms including myoclonus and ataxia. An important gene associated with Myoclonic Epilepsy of Unverricht and Lundborg is CSTB (Cystatin B), and among its related pathways/superpathways are Fatty acid elongation and Aminoacyl-tRNA biosynthesis. The drugs Soy Bean and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include 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

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 mental deterioration 32 HP:0001268
4 myoclonus 32 HP:0001336
5 generalized tonic-clonic seizures 32 HP:0002069
6 absence seizures 32 HP:0002121
7 generalized myoclonic seizures 32 HP:0002123

UMLS symptoms related to Myoclonic Epilepsy of Unverricht and Lundborg:


myoclonus, ataxia

GenomeRNAi Phenotypes related to Myoclonic Epilepsy of Unverricht and Lundborg according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.44 EPM2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.44 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.44 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.44 EPM2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.44 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.44 EPM2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.44 EPM2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.44 CSTB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.44 CSTB EPM2A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.44 CSTB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.44 EPM2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.44 EPM2A

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

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
Bone

Publications for Myoclonic Epilepsy of Unverricht and Lundborg

Articles related to Myoclonic Epilepsy of Unverricht and Lundborg:

(show all 39)
# Title Authors Year
1
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
2
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy. ( 28631894 )
2017
3
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
4
Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy. ( 29089769 )
2017
5
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
6
Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA. ( 26857957 )
2016
7
Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy - Case report. ( 27293345 )
2016
8
Genetics of Lafora progressive myoclonic epilepsy: current perspectives. ( 27194917 )
2016
9
Progressive myoclonic epilepsy with Fanconi syndrome. ( 27293772 )
2016
10
Spinal muscular atrophy associated with progressive myoclonic epilepsy. ( 27647482 )
2016
11
Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy. ( 25828483 )
2016
12
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. ( 27723502 )
2016
13
Myoclonus and seizures in Progressive Myoclonic Epilepsies: pharmacology and therapeutic trials. ( 27629998 )
2016
14
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. ( 25847462 )
2015
15
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. ( 26526000 )
2015
16
Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease. ( 25416783 )
2015
17
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. ( 25361775 )
2014
18
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. ( 24671628 )
2014
19
Efficacy of topiramate as add-on therapy in two different types of progressive myoclonic epilepsy. ( 23909054 )
2013
20
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. ( 24164096 )
2013
21
Horizontal gaze palsy with progressive myoclonic epilepsy: rare presentation of Gaucher's disease. ( 23644323 )
2013
22
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. ( 22606975 )
2012
23
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. ( 22703880 )
2012
24
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. ( 20019223 )
2010
25
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. ( 21087195 )
2010
26
EEG-EMG coherence estimated using time-varying autoregressive models in movement-activated myoclonus in patients with progressive myoclonic epilepsies. ( 21096138 )
2010
27
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. ( 18424452 )
2008
28
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. ( 17455289 )
2007
29
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. ( 16950819 )
2006
30
Diagnosis of infantile spasms, Lennox-Gastaut syndrome, and progressive myoclonic epilepsy. ( 15283704 )
2004
31
Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome. ( 15519918 )
2004
32
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. ( 12571787 )
2002
33
[Progressive myoclonic epilepsy type Lafora]. ( 12187920 )
2001
34
Familial Kufs' disease presenting as a progressive myoclonic epilepsy. ( 10929274 )
2000
35
Progressive myoclonic epilepsies syndrome (Ramsay Hunt syndrome) with mental disorder: report of two cases. ( 10595682 )
1999
36
Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy. ( 7908874 )
1994
37
[Lafora disease (progressive myoclonic epilepsy) in the Bassett hound--possibility of early diagnosis using muscle biopsy?]. ( 1653470 )
1991
38
Familial progressive myoclonic epilepsy. A clinical, genetical, biochemical and patho-anatomical study of a family with a 6-year follow-up. ( 6276514 )
1982
39
[Progressive myoclonic epilepsy: anatomo - clinical study of a sporadic case with a marked cerebellar symptomatology (author's transl)]. ( 1232666 )
1975

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 639)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs147484110 GRCh37 Chromosome 21, 45194641: 45194641
2 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs147484110 GRCh38 Chromosome 21, 43774760: 43774760
3 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
4 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297
5 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh37 Chromosome 21, 45196141: 45196141
6 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh38 Chromosome 21, 43776260: 43776260
7 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh37 Chromosome 21, 45196360: 45196371
8 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh38 Chromosome 21, 43776479: 43776490
9 CSTB CSTB, 2-BP DEL, 2404TC deletion Pathogenic
10 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh37 Chromosome 21, 45194168: 45194168
11 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh38 Chromosome 21, 43774287: 43774287
12 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh37 Chromosome 21, 45196349: 45196360
13 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh38 Chromosome 21, 43776468: 43776479
14 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh37 Chromosome 21, 45194582: 45194582
15 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh38 Chromosome 21, 43774701: 43774701
16 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh37 Chromosome 21, 45194539: 45194539
17 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh38 Chromosome 21, 43774658: 43774658
18 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh37 Chromosome 21, 45194213: 45194213
19 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh38 Chromosome 21, 43774332: 43774332
20 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh37 Chromosome 21, 45194161: 45194162
21 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh38 Chromosome 21, 43774280: 43774281
22 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh37 Chromosome 21, 45196085: 45196085
23 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh38 Chromosome 21, 43776204: 43776204
24 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh38 Chromosome 21, 43774637: 43774656
25 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh37 Chromosome 21, 45194518: 45194537
26 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh38 Chromosome 21, 43774640: 43774657
27 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh37 Chromosome 21, 45194521: 45194538
28 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh38 Chromosome 21, 43774677: 43774677
29 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh37 Chromosome 21, 45194558: 45194558
30 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh38 Chromosome 21, 43774690: 43774690
31 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh37 Chromosome 21, 45194571: 45194571
32 EPM2A NM_005670.3(EPM2A): c.136G> C (p.Ala46Pro) single nucleotide variant Benign rs374338349 GRCh37 Chromosome 6, 146056499: 146056499
33 EPM2A NM_005670.3(EPM2A): c.136G> C (p.Ala46Pro) single nucleotide variant Benign rs374338349 GRCh38 Chromosome 6, 145735363: 145735363
34 EPM2A NM_005670.3(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 GRCh37 Chromosome 6, 146007358: 146007358
35 EPM2A NM_005670.3(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 GRCh38 Chromosome 6, 145686222: 145686222
36 PRICKLE2 NM_198859.3(PRICKLE2): c.123G> A (p.Pro41=) single nucleotide variant Uncertain significance rs727504106 GRCh37 Chromosome 3, 64184481: 64184481
37 PRICKLE2 NM_198859.3(PRICKLE2): c.123G> A (p.Pro41=) single nucleotide variant Uncertain significance rs727504106 GRCh38 Chromosome 3, 64198805: 64198805
38 CSTB NM_000100.3(CSTB): c.29A> C (p.Gln10Pro) single nucleotide variant Uncertain significance rs569851503 GRCh37 Chromosome 21, 45196122: 45196122
39 CSTB NM_000100.3(CSTB): c.29A> C (p.Gln10Pro) single nucleotide variant Uncertain significance rs569851503 GRCh38 Chromosome 21, 43776241: 43776241
40 GOSR2 NM_004287.4(GOSR2): c.-12G> C single nucleotide variant Benign rs183199 GRCh37 Chromosome 17, 45000547: 45000547
41 GOSR2 NM_004287.4(GOSR2): c.-12G> C single nucleotide variant Benign rs183199 GRCh38 Chromosome 17, 46923181: 46923181
42 CSTB NM_000100.3(CSTB): c.121G> A (p.Val41Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143153487 GRCh37 Chromosome 21, 45194586: 45194586
43 CSTB NM_000100.3(CSTB): c.121G> A (p.Val41Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143153487 GRCh38 Chromosome 21, 43774705: 43774705
44 GOSR2 NM_004287.4(GOSR2): c.57G> A (p.Met19Ile) single nucleotide variant Uncertain significance rs369247929 GRCh37 Chromosome 17, 45006913: 45006913
45 GOSR2 NM_004287.4(GOSR2): c.57G> A (p.Met19Ile) single nucleotide variant Uncertain significance rs369247929 GRCh38 Chromosome 17, 46929547: 46929547
46 SCARB2 NM_005506.3(SCARB2): c.246G> C (p.Arg82=) single nucleotide variant Benign/Likely benign rs35035064 GRCh37 Chromosome 4, 77116889: 77116889
47 SCARB2 NM_005506.3(SCARB2): c.246G> C (p.Arg82=) single nucleotide variant Benign/Likely benign rs35035064 GRCh38 Chromosome 4, 76195736: 76195736
48 SCARB2 NM_005506.3(SCARB2): c.382C> G (p.Pro128Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143558324 GRCh37 Chromosome 4, 77102148: 77102148
49 SCARB2 NM_005506.3(SCARB2): c.382C> G (p.Pro128Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143558324 GRCh38 Chromosome 4, 76180995: 76180995
50 EPM2A NM_005670.3(EPM2A): c.680C> T (p.Ala227Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147399860 GRCh37 Chromosome 6, 145956419: 145956419

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

Pathways related to Myoclonic Epilepsy of Unverricht and Lundborg according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid elongation hsa00062
2 Aminoacyl-tRNA biosynthesis hsa00970
3 Other glycan degradation hsa00511
4 Sphingolipid metabolism hsa00600
5 Ubiquitin mediated proteolysis hsa04120
6 Lysosome hsa04142
7 Wnt signaling pathway hsa04310

GO Terms for Myoclonic Epilepsy of Unverricht and Lundborg

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
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