EPM1
MCID: EPL121
MIFTS: 39

Epilepsy, Progressive Myoclonic 1a (EPM1) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Epilepsy, Progressive Myoclonic 1a

Aliases & Descriptions for Epilepsy, Progressive Myoclonic 1a:

Name: Epilepsy, Progressive Myoclonic 1a 54 13
Progressive Myoclonic Epilepsy Unverricht-Lundborg Type 66
Myoclonic Epilepsy of Unverricht and Lundborg 66
Progressive Myoclonic Epilepsy [ambiguous] 29
Epilepsy, Progressive Myoclonic 1 66
Progressive Myoclonic Epilepsy 1a 66
Progressive Myoclonic Epilepsy 1 66
Unverricht-Lundborg Syndrome 69
Baltic Myoclonic Epilepsy 66
Epm1a 66
Epm1 66
Uld 66

Characteristics:

HPO:

32
epilepsy, progressive myoclonic 1a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 254800
MedGen 40 C0751785
MeSH 42 D020191

Summaries for Epilepsy, Progressive Myoclonic 1a

OMIM : 54 Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of... (254800) more...

MalaCards based summary : Epilepsy, Progressive Myoclonic 1a, also known as progressive myoclonic epilepsy unverricht-lundborg type, is related to progressive myoclonus epilepsy and unverricht-lundborg syndrome, and has symptoms including ataxia, myoclonus and dysarthria. An important gene associated with Epilepsy, Progressive Myoclonic 1a is CSTB (Cystatin B). The drugs Soy Bean and Dopamine have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and muscle

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Epilepsy, Progressive Myoclonic 1a

Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Myoclonic, Familial Adult, 5 Epilepsy, Myoclonic, Familial Adult, 2
Epilepsy, Progressive Myoclonic 5 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b Myoclonic Epilepsy, Juvenile 1
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic, 9 Epilepsy, Progressive Myoclonic, 8
Epilepsy, Progressive Myoclonic 1a Epilepsy Progressive Myoclonic Type 3
Cacnb4-Related Juvenile Myoclonic Epilepsy Clcn2-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Gabra1-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Scn1a-Related Severe Myoclonic Epilepsy in Infancy Benign Adult Familial Myoclonic Epilepsy
Epilepsy, Progressive Myoclonic 10

Diseases related to Epilepsy, Progressive Myoclonic 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
id Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy 11.1
2 unverricht-lundborg syndrome 11.1
3 epilepsy, progressive myoclonic 5 10.7
4 epilepsy, progressive myoclonic 4, with or without renal failure 10.7
5 epilepsy, progressive myoclonic 2b 10.7
6 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 10.7
7 epilepsy, progressive myoclonic 7 10.7
8 epilepsy, progressive myoclonic 6 10.7
9 epilepsy 10.4
10 myoclonus epilepsy 10.4
11 myoclonus 10.4
12 scn1a-related seizure disorders 10.0 EPM2A NHLRC1
13 glomerulosclerosis, focal segmental, 2 10.0 CLN6 KCTD7
14 transaldolase deficiency 10.0 CLN6 KCTD7
15 autosomal recessive myogenic arthrogryposis multiplex congenita 9.9 EPM2A NHLRC1
16 bleeding disorder, platelet-type, 16, autosomal dominant 9.9 CLN6 KCTD7
17 gingivitis 9.9 CSTB EPM2A MT-TK
18 medulloblastoma 9.8 CLN6 KCTD7
19 myosin storage myopathy 9.7 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
20 leukodystrophy, hypomyelinating, 11 9.6 CSTB EPM2A GBE1 MT-TK NHLRC1
21 atypical choroid plexus papilloma 9.5 CSTB EPM2A MT-TK NHLRC1 PRICKLE1 SCARB2
22 overuse syndrome 9.5 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
23 mononeuritis multiplex 9.3 ASAH1 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1
24 evans' syndrome 8.7 CLN6 CSTB EPM2A GBE1 GOSR2 KCTD7
25 cataract 44 8.4 ASAH1 CLN6 CSTB EPM2A GBE1 GOSR2

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic 1a:



Diseases related to Epilepsy, Progressive Myoclonic 1a

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic 1a

Symptoms by clinical synopsis from OMIM:

254800

Clinical features from OMIM:

254800

Human phenotypes related to Epilepsy, Progressive Myoclonic 1a:

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

UMLS symptoms related to Epilepsy, Progressive Myoclonic 1a:


myoclonus, ataxia

MGI Mouse Phenotypes related to Epilepsy, Progressive Myoclonic 1a:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 SERPINI1 ASAH1 CLN6 CSTB EPM2A GBE1
2 muscle MP:0005369 9.35 CSTB EPM2A GBE1 NHLRC1 PRICKLE1
3 nervous system MP:0003631 9.23 ASAH1 CLN6 CSTB EPM2A GBE1 NHLRC1

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic 1a

Drugs for Epilepsy, Progressive Myoclonic 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Nutraceutical Phase 4
2
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
3
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
4
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
5 Antiparkinson Agents Phase 2
6 Dopamine Agents Phase 2
7 Dopamine agonists Phase 2
8 Neurotransmitter Agents Phase 2
9
Acetylcysteine Approved, Investigational 616-91-1 12035
10 Antidotes
11 Anti-Infective Agents
12 Antioxidants
13 Antiviral Agents
14 Expectorants
15 N-monoacetylcystine
16 Pharmaceutical Solutions
17 Protective Agents
18 Respiratory System Agents
19 HIV Protease Inhibitors
20 Neuroserpin
21
protease inhibitors
22 Serine Proteinase Inhibitors
23 insulin
24 Insulin, Globin Zinc
25 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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
3 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3
4 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
5 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
6 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
7 Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute Injury Completed NCT01612013
8 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
9 Ketogenic Diet in Lafora Disease Completed NCT00007124
10 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Epilepsy, Progressive Myoclonic 1a

Genetic Tests for Epilepsy, Progressive Myoclonic 1a

Genetic tests related to Epilepsy, Progressive Myoclonic 1a:

id Genetic test Affiliating Genes
1 Progressive Myoclonic Epilepsy 29

Anatomical Context for Epilepsy, Progressive Myoclonic 1a

Publications for Epilepsy, Progressive Myoclonic 1a

Variations for Epilepsy, Progressive Myoclonic 1a

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic 1a:

66
id Symbol AA change Variation ID SNP ID
1 CSTB p.Gly4Arg VAR_002206 rs74315443

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic 1a:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic rs147484110 GRCh37 Chromosome 21, 45194641: 45194641
2 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
3 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh37 Chromosome 21, 45196141: 45196141
4 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh37 Chromosome 21, 45196360: 45196371
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 GRCh37 Chromosome 21, 45194168: 45194168
7 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh37 Chromosome 21, 45196349: 45196360
8 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh37 Chromosome 21, 45194582: 45194582
9 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh37 Chromosome 21, 45194539: 45194539
10 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh37 Chromosome 21, 45194213: 45194213
11 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh37 Chromosome 21, 45194161: 45194162
12 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh37 Chromosome 21, 45196085: 45196085
13 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh38 Chromosome 21, 43774637: 43774656
14 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh38 Chromosome 21, 43774640: 43774657
15 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh38 Chromosome 21, 43774677: 43774677
16 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh38 Chromosome 21, 43774690: 43774690

Expression for Epilepsy, Progressive Myoclonic 1a

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic 1a.

Pathways for Epilepsy, Progressive Myoclonic 1a

GO Terms for Epilepsy, Progressive Myoclonic 1a

Cellular components related to Epilepsy, Progressive Myoclonic 1a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tertiary granule lumen GO:1904724 8.62 ASAH1 CSTB

Biological processes related to Epilepsy, Progressive Myoclonic 1a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein ubiquitination GO:0031398 9.16 NHLRC1 PRICKLE1
2 glycogen metabolic process GO:0005977 8.96 EPM2A GBE1
3 glycogen biosynthetic process GO:0005978 8.8 EPM2A GBE1 NHLRC1

Sources for Epilepsy, Progressive Myoclonic 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....