MCID: EPL121
MIFTS: 34

Epilepsy, Progressive Myoclonic 1a

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic 1a

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic 1a:

Name: Epilepsy, Progressive Myoclonic 1a 54 13
Progressive Myoclonic Epilepsy Unverricht-Lundborg Type 71
Myoclonic Epilepsy of Unverricht and Lundborg 71
Epilepsy, Progressive Myoclonic 1 71
Progressive Myoclonic Epilepsy 1a 71
Myoclonic Epilepsies, Progressive 69
Progressive Myoclonic Epilepsy 1 71
Progressive Myoclonic Epilepsy 29
Unverricht-Lundborg Syndrome 69
Baltic Myoclonic Epilepsy 71
Epm1a 71
Epm1 71
Uld 71

Characteristics:

OMIM:

54
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
epilepsy, progressive myoclonic 1a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Progressive Myoclonic 1a

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Epilepsy, Progressive Myoclonic 1a, also known as progressive myoclonic epilepsy unverricht-lundborg type, is related to spinal muscular atrophy with progressive myoclonic epilepsy and progressive myoclonic epilepsy 5, and has symptoms including myoclonus, dysarthria and ataxia. 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.

OMIM : 54
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)

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, Juvenile Myoclonic 9 Epilepsy, Progressive Myoclonic, 10
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 Progressive Myoclonic Epilepsy 5
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

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

(show all 36)
id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy with progressive myoclonic epilepsy 12.5
2 progressive myoclonic epilepsy 5 12.0
3 epilepsy, progressive myoclonic 2b 11.8
4 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 11.8
5 epilepsy, progressive myoclonic 4, with or without renal failure 11.7
6 epilepsy, progressive myoclonic 7 11.7
7 epilepsy, progressive myoclonic, 9 11.6
8 epilepsy, progressive myoclonic, 8 11.6
9 epilepsy, progressive myoclonic 6 11.5
10 progressive myoclonus epilepsy 11.3
11 progressive myoclonus epilepsy, lafora type 11.3
12 prickle1-related progressive myoclonus epilepsy with ataxia 11.2
13 unverricht-lundborg syndrome 11.2
14 gosr2-related progressive myoclonus ataxia 11.1
15 encephalopathy, familial, with neuroserpin inclusion bodies 11.0
16 ceroid lipofuscinosis, neuronal, kufs type, adult onset 11.0
17 epileptic encephalopathy, early infantile, 16 11.0
18 moved to {607459} 11.0
19 epilepsy progressive myoclonic type 3 11.0
20 mitochondrial recessive ataxia syndrome 11.0
21 spastic ataxia 5, autosomal recessive 10.9
22 epilepsy, progressive myoclonic, 10 10.9
23 epilepsy 10.5
24 muscular atrophy 10.2
25 spinal muscular atrophy 10.2
26 myoclonus 9.9
27 gaucher's disease 9.9
28 retinitis 9.8
29 dystonia 9.8
30 leigh syndrome 9.8
31 retinitis pigmentosa 9.8
32 lennox-gastaut syndrome 9.8
33 leukodystrophy 9.8
34 fanconi syndrome 9.8
35 nephrotic syndrome 9.8
36 status epilepticus 9.8

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 via clinical synopsis from OMIM:

54

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

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 myoclonus 32 HP:0001336
2 dysarthria 32 HP:0001260
3 ataxia 32 HP:0001251
4 absence seizures 32 HP:0002121
5 generalized tonic-clonic seizures 32 HP:0002069
6 mental deterioration 32 HP:0001268

UMLS symptoms related to Epilepsy, Progressive Myoclonic 1a:


myoclonus, ataxia

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic 1a

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

(show all 22)
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 Antiparkinson Agents Phase 2
5 Dopamine Agents Phase 2
6 Dopamine agonists Phase 2
7 Neurotransmitter Agents Phase 2
8
Acetylcysteine Approved, Investigational 616-91-1 12035
9 Antidotes
10 Anti-Infective Agents
11 Antioxidants
12 Antiviral Agents
13 Expectorants
14 N-monoacetylcystine
15 Pharmaceutical Solutions
16 Protective Agents
17 Respiratory System Agents
18 HIV Protease Inhibitors
19 Neuroserpin
20
protease inhibitors
21 Serine Proteinase Inhibitors
22 serine Nutraceutical

Interventional clinical trials:


id 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 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
5 Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute Injury Completed NCT01612013 Sodium bicarbonate plus saline;Intravenous NAC plus saline;NAC plus sodium bicarbonate plus saline;Saline;NAC plus saline;NAC plus sodium bicarbonate plus saline
6 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176

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:

71
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

Sources for Epilepsy, Progressive Myoclonic 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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