EPM2
MCID: EPL070
MIFTS: 53

Epilepsy, Progressive Myoclonic 2b (EPM2) malady

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic 2b

Aliases & Descriptions for Epilepsy, Progressive Myoclonic 2b:

Name: Epilepsy, Progressive Myoclonic 2b 54 69
Lafora Disease 12 50 56 66 52 42 14 69
Myoclonic Epilepsy of Lafora 54 12 50 66
Lafora's Disease 12 66 29
Epm2 50 56 66
Epilepsy, Progressive Myoclonic 2a 54 13
Progressive Myoclonic Epilepsy 2b 66 29
Melf 50 66
Progressive Myoclonic Epilepsy Lafora Type 66
Lafora Progressive Myoclonic Epilepsy 12
Progressive Myoclonic Epilepsy Type 2 56
Progressive Myoclonus Epilepsy Type 2 56
Epilepsy, Progressive Myoclonic 2 66
Progressive Myoclonic Epilepsy 2a 66
Epilepsy Progressive Myoclonic 2 50
Progressive Myoclonic Epilepsy 2 66
Lafora Body Disorder 50
Pme Type 2 56
Epm2a 66
Epm2b 66
Ld 66

Characteristics:

Orphanet epidemiological data:

56
lafora disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent; Age of death: young Adult;

HPO:

32
epilepsy, progressive myoclonic 2b:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 254780
Disease Ontology 12 DOID:3534
MeSH 42 D020192
NCIt 47 C84804
SNOMED-CT 64 230425004
Orphanet 56 ORPHA501
MESH via Orphanet 43 D020192
UMLS via Orphanet 70 C0751783
ICD10 via Orphanet 34 G40.3
UMLS 69 C0751783

Summaries for Epilepsy, Progressive Myoclonic 2b

OMIM : 54 The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset... (254780) more...

MalaCards based summary : Epilepsy, Progressive Myoclonic 2b, also known as lafora disease, is related to epm2a-related lafora disease and nhlrc1-related lafora disease, and has symptoms including myoclonus, gait disturbance and abnormality of metabolism/homeostasis. An important gene associated with Epilepsy, Progressive Myoclonic 2b is EPM2A (EPM2A, Laforin Glucan Phosphatase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. The drugs Inulin and Cola have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, and related phenotypes are behavior/neurological and cellular

NIH Rare Diseases : 50 lafora disease is an inherited, severe form of progressive myoclonus epilepsy. the condition most commonly begins with epileptic seizures in late childhood or adolescence. other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. the condition is often fatal within 10 years of onset. most cases are caused by changes (mutations) in either the epm2a gene or the nhlrc1 gene and are inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 9/29/2015

UniProtKB/Swiss-Prot : 66 Epilepsy, progressive myoclonic 2: An autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum.

Related Diseases for Epilepsy, Progressive Myoclonic 2b

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 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 epm2a-related lafora disease 11.8
2 nhlrc1-related lafora disease 11.8
3 loeys-dietz syndrome 11.6
4 loeys-dietz syndrome 1 11.2
5 progressive myoclonus epilepsy, lafora type 11.1
6 shprintzen-goldberg syndrome 10.9
7 legionaire disease 10.9
8 lactate dehydrogenase deficiency 10.8
9 loeys-dietz syndrome 5 10.8
10 scn1a-related seizure disorders 10.1 EPM2A NHLRC1
11 adenocarcinoma 10.1
12 overuse syndrome 10.0 CSTB EPM2A NHLRC1
13 mononeuritis multiplex 10.0 CSTB EPM2A NHLRC1
14 endometrial adenocarcinoma 10.0
15 autosomal recessive myogenic arthrogryposis multiplex congenita 9.9 EPM2A NHLRC1 PRDM8
16 gingivitis 9.9 CSTB EPM2A MT-TK
17 leukemia 9.9
18 acute leukemia 9.8
19 learning disability 9.8
20 myelodysplastic syndrome 9.8
21 myosin storage myopathy 9.8 CSTB EPM2A NHLRC1 PRDM8
22 cataract 44 9.8 CSTB EPM2A GBE1 MT-TK NHLRC1
23 myoclonus 9.8
24 progressive myoclonus epilepsy 9.8
25 myoclonus epilepsy 9.8
26 epilepsy 9.8
27 pierre robin syndrome and oligodactyly 9.8 CDKN3 DUSP13
28 distichiasis 9.7
29 lymphedema 9.7
30 lymphedema-distichiasis syndrome 9.7
31 evans' syndrome 9.7 CSTB EPM2A GBE1 NHLRC1 PRDM8
32 neurofibromatosis, type 1 9.6
33 cerebritis 9.6
34 testicular germ cell tumor 9.6
35 turner syndrome 9.6
36 endotheliitis 9.6
37 fragile x syndrome 9.6
38 dyslexia 9.6
39 seminoma 9.6
40 dysgraphia 9.6
41 chronic lymphocytic leukemia 9.6
42 cll/sll 9.6
43 lung cancer 9.6
44 neurofibromatosis 9.6
45 atopy 9.6
46 lennox-gastaut syndrome 9.6
47 cerebral cavernous malformations 3 9.6
48 lymphoma 9.6
49 attention deficit-hyperactivity disorder 9.6
50 lymphocytic choriomeningitis 9.6

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic 2b:



Diseases related to Epilepsy, Progressive Myoclonic 2b

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic 2b

Symptoms by clinical synopsis from OMIM:

254780

Clinical features from OMIM:

254780

Human phenotypes related to Epilepsy, Progressive Myoclonic 2b:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 gait disturbance 32 HP:0001288
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 generalized myoclonic seizures 32 HP:0002123
5 psychosis 32 HP:0000709
6 apraxia 32 HP:0002186
7 absence seizures 32 HP:0002121
8 visual loss 32 HP:0000572
9 dementia 32 HP:0000726
10 hepatic failure 32 HP:0001399
11 cutaneous photosensitivity 32 HP:0000992
12 progressive neurologic deterioration 32 HP:0002344
13 visual hallucinations 32 HP:0002367
14 generalized tonic-clonic seizures with focal onset 32 HP:0007334
15 visual auras 32 HP:0011165

UMLS symptoms related to Epilepsy, Progressive Myoclonic 2b:


myoclonus, hallucinations, visual, unspecified visual loss

MGI Mouse Phenotypes related to Epilepsy, Progressive Myoclonic 2b:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CSTB EPM2A GBE1 NHLRC1 PRDM8 PRKN
2 cellular MP:0005384 9.76 CLN3 CSTB EPM2A GBE1 NHLRC1 PPP1R3C
3 muscle MP:0005369 9.43 CSTB EPM2A GBE1 NHLRC1 PPP1R3C PRKN
4 nervous system MP:0003631 9.17 CLN3 CSTB EPM2A GBE1 NHLRC1 PRDM8

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic 2b

Drugs for Epilepsy, Progressive Myoclonic 2b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Inulin Approved, Nutraceutical Phase 4 9005-80-5 24763
2 Cola Nutraceutical Phase 4
3 Soy Bean Nutraceutical Phase 4
4
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
5
Asenapine Approved Phase 3 85650-56-2, 65576-45-6 3001386
6
Chlorpromazine Approved, Vet_approved Phase 3 50-53-3 2726
7
Clozapine Approved Phase 3 5786-21-0 2818
8
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
9
Droperidol Approved, Vet_approved Phase 3 548-73-2 3168
10
Haloperidol Approved Phase 3 52-86-8 3559
11
Methotrimeprazine Approved Phase 3 60-99-1 72287
12
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
13
Perphenazine Approved Phase 3 58-39-9 4748
14
Pimozide Approved Phase 3 2062-78-4 16362
15
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
16
Sulpiride Approved Phase 3 15676-16-1 5355
17
Trifluoperazine Approved Phase 3 117-89-5 5566
18
Ziprasidone Approved Phase 3 146939-27-7 60854
19
decanoic acid Experimental Phase 3 334-48-5 2969
20 Adjuvants, Anesthesia Phase 3
21 Analgesics Phase 3
22 Analgesics, Non-Narcotic Phase 3
23 Anesthetics Phase 3
24 Antidepressive Agents Phase 3
25 Antidepressive Agents, Second-Generation Phase 3
26 Antiemetics Phase 3
27 Antipsychotic Agents Phase 3
28 Autonomic Agents Phase 3
29 Central Nervous System Depressants Phase 3
30 Clopenthixol Phase 3
31 Clothiapine Phase 3
32 Dopamine Agents Phase 3
33 Dopamine Antagonists Phase 3
34 Dopamine D2 Receptor Antagonists Phase 3
35 Flupenthixol decanoate Phase 3
36 GABA Agents Phase 3
37 Gastrointestinal Agents Phase 3
38 Haloperidol decanoate Phase 3
39 Neurotransmitter Agents Phase 3
40 Neurotransmitter Uptake Inhibitors Phase 3
41 Paliperidone Palmitate Phase 3
42 Peripheral Nervous System Agents Phase 3
43 Psychotropic Drugs Phase 3
44 Quetiapine Fumarate Phase 3 111974-72-2
45
Serotonin Phase 3 50-67-9 5202
46 Serotonin 5-HT2 Receptor Antagonists Phase 3
47 Serotonin Agents Phase 3
48 Serotonin Antagonists Phase 3
49 Serotonin Uptake Inhibitors Phase 3
50 sultopride Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Dietary Fiber Mixture in Constipated Pediatric Patients Completed NCT01333787 Phase 4
2 Clinical Trial to Evaluate the Efficacy of Treatment vs Discontinuation in a First Episode of Non-affective Psychosis Unknown status NCT01765829 Phase 3
3 Ketogenic Diet in Lafora Disease Completed NCT00007124

Search NIH Clinical Center for Epilepsy, Progressive Myoclonic 2b

Cochrane evidence based reviews: lafora disease

Genetic Tests for Epilepsy, Progressive Myoclonic 2b

Genetic tests related to Epilepsy, Progressive Myoclonic 2b:

id Genetic test Affiliating Genes
1 Lafora Disease 29
2 Epilepsy, Progressive Myoclonic 2b 29

Anatomical Context for Epilepsy, Progressive Myoclonic 2b

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic 2b:

39
Heart, Liver, Brain, Skeletal Muscle

Publications for Epilepsy, Progressive Myoclonic 2b

Variations for Epilepsy, Progressive Myoclonic 2b

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic 2b:

66 (show all 41)
id Symbol AA change Variation ID SNP ID
1 EPM2A p.Ser25Pro VAR_019465
2 EPM2A p.Glu28Lys VAR_019466
3 EPM2A p.Trp32Gly VAR_019467 rs104893955
4 EPM2A p.Phe84Leu VAR_019469
5 EPM2A p.Phe88Leu VAR_019470
6 EPM2A p.Arg91Pro VAR_019471
7 EPM2A p.Arg108Cys VAR_019472 rs137852915
8 EPM2A p.Arg171His VAR_019474 rs137852916
9 EPM2A p.Thr187Ala VAR_019475
10 EPM2A p.Thr194Ile VAR_019476 rs375544596
11 EPM2A p.Gly240Ser VAR_019477
12 EPM2A p.Gly279Ser VAR_019478 rs137852917
13 EPM2A p.Gln293Leu VAR_019479 rs796052427
14 EPM2A p.Tyr294Asn VAR_019480
15 EPM2A p.Pro301Leu VAR_019481 rs796052428
16 EPM2A p.Lys140Asn VAR_046383
17 EPM2A p.Asn148Tyr VAR_046384
18 EPM2A p.Glu210Lys VAR_046385
19 EPM2A p.Leu310Trp VAR_046386
20 NHLRC1 p.Cys26Ser VAR_019482 rs28940575
21 NHLRC1 p.Phe33Ser VAR_019483 rs757759398
22 NHLRC1 p.Pro69Ala VAR_019484 rs28940576
23 NHLRC1 p.Leu87Pro VAR_019485
24 NHLRC1 p.Asp146Asn VAR_019487 rs769301934
25 NHLRC1 p.Gln302Pro VAR_019488 rs757858146
26 NHLRC1 p.Ser22Arg VAR_046387
27 NHLRC1 p.Glu67Gln VAR_046388 rs779507031
28 NHLRC1 p.Cys68Tyr VAR_046389
29 NHLRC1 p.Leu126Pro VAR_046390
30 NHLRC1 p.Ile153Met VAR_046391
31 NHLRC1 p.Cys160Arg VAR_046392 rs200595273
32 NHLRC1 p.Ile198Asn VAR_046393 rs121917876
33 NHLRC1 p.Trp219Arg VAR_046394
34 NHLRC1 p.Asp233Ala VAR_046395
35 NHLRC1 p.Asp245Asn VAR_046396
36 NHLRC1 p.Arg253Lys VAR_046397
37 NHLRC1 p.Pro264His VAR_046398
38 NHLRC1 p.Leu279Pro VAR_046399
39 NHLRC1 p.Asp308Ala VAR_046401 rs137852859
40 NHLRC1 p.Cys46Tyr VAR_070793
41 NHLRC1 p.Leu261Pro VAR_070794

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic 2b:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 NHLRC1 NM_198586.2(NHLRC1): c.76T> A (p.Cys26Ser) single nucleotide variant Pathogenic rs28940575 GRCh37 Chromosome 6, 18122762: 18122762
2 NHLRC1 NM_198586.2(NHLRC1): c.205C> G (p.Pro69Ala) single nucleotide variant Pathogenic rs28940576 GRCh37 Chromosome 6, 18122633: 18122633
3 NHLRC1 NM_198586.2(NHLRC1): c.468_469delAG (p.Gly158Argfs) deletion Pathogenic rs587776542 GRCh37 Chromosome 6, 18122369: 18122370
4 NHLRC1 NM_198586.2(NHLRC1): c.992delG (p.Gly331Glufs) deletion Pathogenic rs587776543 GRCh37 Chromosome 6, 18121846: 18121846
5 NHLRC1 NM_198586.2(NHLRC1): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917875 GRCh37 Chromosome 6, 18122045: 18122045
6 NHLRC1 NM_198586.2(NHLRC1): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs121917876 GRCh37 Chromosome 6, 18122245: 18122245
7 NHLRC1 NM_198586.2(NHLRC1): c.923A> C (p.Asp308Ala) single nucleotide variant Pathogenic rs137852859 GRCh37 Chromosome 6, 18121915: 18121915
8 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh37 Chromosome 6, 145948827: 145948827
9 EPM2A NM_005670.3(EPM2A): c.835G> A (p.Gly279Ser) single nucleotide variant Pathogenic rs137852917 GRCh37 Chromosome 6, 145948713: 145948713
10 EPM2A NM_005670.3(EPM2A): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs137852915 GRCh37 Chromosome 6, 146007412: 146007412
11 EPM2A NM_005670.3(EPM2A): c.335dupA (p.Tyr112Terfs) duplication Pathogenic rs587776553 GRCh37 Chromosome 6, 146007399: 146007399
12 EPM2A NM_005670.3(EPM2A): c.950dupT (p.Gln319Profs) duplication Pathogenic rs587776554 GRCh37 Chromosome 6, 145948598: 145948598
13 EPM2A NM_005670.3(EPM2A): c.94T> G (p.Trp32Gly) single nucleotide variant Pathogenic rs104893955 GRCh37 Chromosome 6, 146056541: 146056541
14 NHLRC1 NM_198586.2(NHLRC1): c.436G> A (p.Asp146Asn) single nucleotide variant Pathogenic rs769301934 GRCh37 Chromosome 6, 18122402: 18122402
15 NHLRC1 NM_198586.2(NHLRC1): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs794726964 GRCh37 Chromosome 6, 18122174: 18122174

Expression for Epilepsy, Progressive Myoclonic 2b

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic 2b.

Pathways for Epilepsy, Progressive Myoclonic 2b

GO Terms for Epilepsy, Progressive Myoclonic 2b

Biological processes related to Epilepsy, Progressive Myoclonic 2b according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.61 EPM2A GBE1 PPP1R3C
2 dephosphorylation GO:0016311 9.58 CDKN3 DUSP13 EPM2A
3 autophagy GO:0006914 9.54 EPM2A NHLRC1 PRKN
4 adult locomotory behavior GO:0008344 9.46 CSTB PRKN
5 protein dephosphorylation GO:0006470 9.46 CDKN3 DUSP13 EPM2A PPP1R3C
6 peptidyl-tyrosine dephosphorylation GO:0035335 9.43 CDKN3 DUSP13 EPM2A
7 negative regulation of proteolysis GO:0045861 9.32 CLN3 CSTB
8 glycogen metabolic process GO:0005977 9.13 EPM2A GBE1 PPP1R3C
9 glycogen biosynthetic process GO:0005978 8.92 EPM2A GBE1 NHLRC1 PPP1R3C

Molecular functions related to Epilepsy, Progressive Myoclonic 2b according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.43 CDKN3 DUSP13 EPM2A
2 protein tyrosine phosphatase activity GO:0004725 9.33 CDKN3 DUSP13 EPM2A
3 protein serine/threonine phosphatase activity GO:0004722 9.13 CDKN3 EPM2A PPP1R3C
4 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.8 CDKN3 DUSP13 EPM2A

Sources for Epilepsy, Progressive Myoclonic 2b

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
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