EPM2
MCID: MYC079
MIFTS: 60

Myoclonic Epilepsy of Lafora (EPM2)

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

Aliases & Classifications for Myoclonic Epilepsy of Lafora

MalaCards integrated aliases for Myoclonic Epilepsy of Lafora:

Name: Myoclonic Epilepsy of Lafora 58 12 54 76
Lafora Disease 58 12 77 54 60 76 38 30 56 6 45 15 74
Epilepsy, Progressive Myoclonic 2b 58 30 6 74
Epm2 58 54 60 76
Melf 58 54 76
Epilepsy, Progressive Myoclonic 2a 58 13
Lafora's Disease 12 76
Epm2a 58 76
Epilepsy, Progressive Myoclonic, 2a; Epm2a 58
Progressive Myoclonic Epilepsy Lafora Type 76
Lafora Progressive Myoclonic Epilepsy 12
Progressive Myoclonic Epilepsy Type 2 60
Progressive Myoclonus Epilepsy Type 2 60
Epilepsy, Progressive Myoclonic, 2a 58
Epilepsy, Progressive Myoclonic 2 76
Progressive Myoclonic Epilepsy 2a 76
Progressive Myoclonic Epilepsy 2b 76
Epilepsy Progressive Myoclonic 2 54
Progressive Myoclonic Epilepsy 2 76
Epilepsy, Myoclonic, of Lafora 41
Lafora Body Disease; Lbd 58
Lafora Body Disorder 54
Lafora Body Disease 58
Pme Type 2 60
Epm2b 76
Lbd 58
Ld 76

Characteristics:

Orphanet epidemiological data:

60
lafora disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent; Age of death: young Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
onset in late childhood/adolescence (approximately 15 years)
short survival (less than 10 years after onset)
rapidly progressive disorder
patients with mutation in the nhlrc1 gene have slightly longer survival


HPO:

33
myoclonic epilepsy of lafora:
Onset and clinical course rapidly progressive
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3534
OMIM 58 254780
KEGG 38 H01994
MeSH 45 D020192
NCIt 51 C84804
MESH via Orphanet 46 D020192
ICD10 via Orphanet 35 G40.3
UMLS via Orphanet 75 C0751783
Orphanet 60 ORPHA501

Summaries for Myoclonic Epilepsy of Lafora

OMIM : 58 The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (254780)

MalaCards based summary : Myoclonic Epilepsy of Lafora, also known as lafora disease, is related to myoclonic epilepsy of unverricht and lundborg and myoclonus, and has symptoms including myoclonus, absence seizures and hallucinations, visual. An important gene associated with Myoclonic Epilepsy of Lafora is EPM2A (EPM2A Glucan Phosphatase, Laforin), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. The drugs Inulin and Cola have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and brain, and related phenotypes are gait disturbance and abnormality of metabolism/homeostasis

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal... more...

Related Diseases for Myoclonic Epilepsy of Lafora

Diseases related to Myoclonic Epilepsy of Lafora via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 30.4 CSTB EPM2A
2 myoclonus 30.2 CSTB EPM2A NHLRC1
3 myoclonus epilepsy 29.9 CSTB EPM2A NHLRC1
4 early myoclonic encephalopathy 29.8 CSTB EPM2A
5 progressive myoclonus epilepsy 29.5 CSTB EPM2A GBE1 NHLRC1
6 unverricht-lundborg syndrome 29.0 CLN3 CSTB EPM2A NHLRC1
7 lipoprotein types--ld system 12.1
8 loeys-dietz syndrome 11.9
9 epilepsy, progressive myoclonic, 10 11.8
10 progressive myoclonus epilepsy, lafora type 11.4
11 loeys-dietz syndrome 1 11.3
12 shprintzen-goldberg craniosynostosis syndrome 11.2
13 legionnaire disease 11.2
14 recombination rate quantitative trait locus 1 11.2
15 electroclinical syndrome 11.2
16 dementia, lewy body 11.1
17 dystonia 11, myoclonic 11.1
18 loeys-dietz syndrome 2 11.0
19 loeys-dietz syndrome 5 11.0
20 lactate dehydrogenase deficiency 11.0
21 benign epilepsy with centrotemporal spikes 11.0
22 endometrial cancer 10.5
23 learning disability 10.5
24 adenocarcinoma 10.4
25 salla disease 10.3
26 glucocorticoid resistance, generalized 10.3
27 epilepsy 10.2
28 leukemia 10.2
29 hypophosphatemic bone disease 10.1
30 retinitis pigmentosa 10.1
31 leber congenital amaurosis 4 10.1
32 retinitis 10.1
33 myelodysplastic syndrome 10.1
34 endometrial adenocarcinoma 10.1
35 mycobacterium marinum 10.1
36 schizophrenia 10.0
37 fasting hypoglycemia 10.0 GYS1 GYS2
38 radin blood group antigen 10.0
39 acute leukemia 10.0
40 substance abuse 10.0
41 polymyositis 10.0
42 3-methylglutaconic aciduria, type iii 10.0
43 macular degeneration, age-related, 1 10.0
44 cardiac arrhythmia 10.0
45 polyglucosan body neuropathy, adult form 10.0
46 pancytopenia 10.0
47 glycoproteinosis 10.0
48 adult polyglucosan body disease 10.0
49 diabetes mellitus, noninsulin-dependent 9.9
50 diabetes mellitus 9.9

Graphical network of the top 20 diseases related to Myoclonic Epilepsy of Lafora:



Diseases related to Myoclonic Epilepsy of Lafora

Symptoms & Phenotypes for Myoclonic Epilepsy of Lafora

Human phenotypes related to Myoclonic Epilepsy of Lafora:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 33 HP:0001288
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 generalized myoclonic seizures 33 HP:0002123
4 myoclonus 33 HP:0001336
5 psychosis 33 HP:0000709
6 apraxia 33 HP:0002186
7 visual loss 33 HP:0000572
8 dementia 33 HP:0000726
9 hepatic failure 33 HP:0001399
10 cutaneous photosensitivity 33 HP:0000992
11 visual hallucinations 33 HP:0002367
12 progressive neurologic deterioration 33 HP:0002344
13 simple partial occipital seizures 33 HP:0025121
14 generalized tonic-clonic seizures with focal onset 33 HP:0007334
15 absence seizure 33 HP:0002121
16 visual auras 33 HP:0011165

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
myoclonus
generalized tonic-clonic seizures
apraxia
absence seizures
dementia
more
Head And Neck Eyes:
photosensitivity
loss of vision

Laboratory Abnormalities:
intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

Neurologic Behavioral Psychiatric Manifestations:
psychosis

Abdomen Liver:
hepatic failure (less common)

Clinical features from OMIM:

254780

UMLS symptoms related to Myoclonic Epilepsy of Lafora:


myoclonus, absence seizures, hallucinations, visual, unspecified visual loss

GenomeRNAi Phenotypes related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased POU5F1-GFP protein expression GR00184-A-1 8.92 CSTB GBE1 GYS1 NHLRC1

MGI Mouse Phenotypes related to Myoclonic Epilepsy of Lafora:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 CLN3 CSTB EPM2A GBE1 GYS1 GYS2
2 liver/biliary system MP:0005370 9.43 CLN3 EPM2A GBE1 GYS1 GYS2 NHLRC1
3 muscle MP:0005369 9.17 CSTB EPM2A GBE1 GYS1 GYS2 NHLRC1

Drugs & Therapeutics for Myoclonic Epilepsy of Lafora

Drugs for Myoclonic Epilepsy of Lafora (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
2 Cola Phase 4
3 Soy Bean Phase 4
4 Insulin, Globin Zinc
5 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dietary Fiber Mixture in Constipated Pediatric Patients Completed NCT01333787 Phase 4
2 Ketogenic Diet in Lafora Disease Completed NCT00007124
3 Natural History and Functional Status Study of Patients With Lafora Disease Recruiting NCT03876522

Search NIH Clinical Center for Myoclonic Epilepsy of Lafora

Cochrane evidence based reviews: lafora disease

Genetic Tests for Myoclonic Epilepsy of Lafora

Genetic tests related to Myoclonic Epilepsy of Lafora:

# Genetic test Affiliating Genes
1 Lafora Disease 30 EPM2A NHLRC1
2 Epilepsy, Progressive Myoclonic 2b 30

Anatomical Context for Myoclonic Epilepsy of Lafora

MalaCards organs/tissues related to Myoclonic Epilepsy of Lafora:

42
Liver, Heart, Brain, Skin, Skeletal Muscle, Cortex, Retina

Publications for Myoclonic Epilepsy of Lafora

Articles related to Myoclonic Epilepsy of Lafora:

(show top 50) (show all 182)
# Title Authors Year
1
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease. ( 30525203 )
2019
2
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience. ( 30598679 )
2019
3
Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance. ( 30701169 )
2018
4
Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion. ( 29444631 )
2018
5
Lafora disease offers a unique window into neuronal glycogen metabolism. ( 29483193 )
2018
6
Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom. ( 29610669 )
2018
7
Degradation of altered mitochondria by autophagy is impaired in Lafora disease. ( 29645350 )
2018
8
Extraneurological sparing in long-lived typical Lafora disease. ( 29881811 )
2018
9
Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain". ( 29907606 )
2018
10
Lafora disease: from genotype to phenotype. ( 30027899 )
2018
11
A novel EPM2A mutation yields a slow progression form of Lafora disease. ( 30041081 )
2018
12
Lafora Disease: A Ubiquitination-Related Pathology. ( 30050012 )
2018
13
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. ( 30083360 )
2018
14
Lafora disease - from pathogenesis to treatment strategies. ( 30143794 )
2018
15
Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease. ( 30152044 )
2018
16
Correction to: Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. ( 30207324 )
2018
17
Lafora Disease: A Review of Molecular Mechanisms and Pathology. ( 30336494 )
2018
18
Lafora Disease Masquerading as Hepatic Dysfunction. ( 30498646 )
2018
19
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease. ( 28536304 )
2017
20
Clinical and genetic studies in patients with Lafora disease from Pakistan. ( 28131202 )
2017
21
A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood. ( 28818698 )
2017
22
Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family. ( 28934672 )
2017
23
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. ( 28800070 )
2017
24
Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease. ( 28973665 )
2017
25
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease. ( 28098937 )
2017
26
Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models. ( 27041370 )
2017
27
Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models. ( 28063983 )
2017
28
Everolimus does not prevent Lafora body formation in murine Lafora disease. ( 28097224 )
2017
29
4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease. ( 28181916 )
2017
30
Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267]. ( 28320149 )
2017
31
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report. ( 28556688 )
2017
32
Lafora Disease Is an Inherited Metabolic Cardiomyopathy. ( 28619201 )
2017
33
Lafora disease in miniature Wirehaired Dachshunds. ( 28767715 )
2017
34
Diagnosis of Lafora Disease by Skin Biopsy. ( 29207724 )
2017
35
Lafora disease. ( 27702709 )
2016
36
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
37
Efficacy and tolerability of perampanel in ten patients with Lafora disease. ( 27459034 )
2016
38
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. ( 27574708 )
2016
39
Could a slow progressive form of Lafora disease be associated with a possible third locus? ( 26708063 )
2016
40
Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease. ( 26976331 )
2016
41
NHLRC1 repeat expansion in two beagles with Lafora disease. ( 27747878 )
2016
42
SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease. ( 29152446 )
2016
43
Unusual Course of Lafora Disease. ( 29588937 )
2016
44
Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. ( 26648032 )
2015
45
Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease. ( 25627694 )
2015
46
Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. ( 25544560 )
2015
47
Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease. ( 25416783 )
2015
48
Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin. ( 25683376 )
2015
49
Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. ( 26102034 )
2015
50
Retinitis pigmentosa in Lafora disease: expanding findings of progressive myoclonic epilepsy. ( 26391413 )
2015

Variations for Myoclonic Epilepsy of Lafora

UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy of Lafora:

76 (show all 41)
# 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 rs136223130
5 EPM2A p.Phe88Leu VAR_019470 rs103470642
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 rs950907157
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 rs119371874
41 NHLRC1 p.Leu261Pro VAR_070794 rs879745047

ClinVar genetic disease variations for Myoclonic Epilepsy of Lafora:

6 (show top 50) (show all 160)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPM2A NM_005670.3(EPM2A): c.136G> C (p.Ala46Pro) single nucleotide variant Benign rs374338349 GRCh37 Chromosome 6, 146056499: 146056499
2 EPM2A NM_005670.3(EPM2A): c.136G> C (p.Ala46Pro) single nucleotide variant Benign rs374338349 GRCh38 Chromosome 6, 145735363: 145735363
3 NHLRC1 NM_198586.2(NHLRC1): c.436G> A (p.Asp146Asn) single nucleotide variant Pathogenic rs769301934 GRCh37 Chromosome 6, 18122402: 18122402
4 NHLRC1 NM_198586.2(NHLRC1): c.436G> A (p.Asp146Asn) single nucleotide variant Pathogenic rs769301934 GRCh38 Chromosome 6, 18122171: 18122171
5 NHLRC1 NM_198586.2(NHLRC1): c.32C> A (p.Ala11Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139029314 GRCh37 Chromosome 6, 18122806: 18122806
6 NHLRC1 NM_198586.2(NHLRC1): c.32C> A (p.Ala11Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139029314 GRCh38 Chromosome 6, 18122575: 18122575
7 NHLRC1 NM_198586.2(NHLRC1): c.46A> G (p.Met16Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146636139 GRCh37 Chromosome 6, 18122792: 18122792
8 NHLRC1 NM_198586.2(NHLRC1): c.46A> G (p.Met16Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146636139 GRCh38 Chromosome 6, 18122561: 18122561
9 NHLRC1 NM_198586.2(NHLRC1): c.1142A> G (p.Asp381Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200201752 GRCh37 Chromosome 6, 18121696: 18121696
10 NHLRC1 NM_198586.2(NHLRC1): c.1142A> G (p.Asp381Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200201752 GRCh38 Chromosome 6, 18121465: 18121465
11 NHLRC1 NM_198586.2(NHLRC1): c.1091C> T (p.Ser364Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs78324544 GRCh37 Chromosome 6, 18121747: 18121747
12 NHLRC1 NM_198586.2(NHLRC1): c.1091C> T (p.Ser364Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs78324544 GRCh38 Chromosome 6, 18121516: 18121516
13 NHLRC1 NM_198586.2(NHLRC1): c.1090T> A (p.Ser364Thr) single nucleotide variant Uncertain significance rs370044232 GRCh37 Chromosome 6, 18121748: 18121748
14 NHLRC1 NM_198586.2(NHLRC1): c.1090T> A (p.Ser364Thr) single nucleotide variant Uncertain significance rs370044232 GRCh38 Chromosome 6, 18121517: 18121517
15 NHLRC1 NM_198586.2(NHLRC1): c.969C> T (p.Ser323=) single nucleotide variant Benign rs142941035 GRCh37 Chromosome 6, 18121869: 18121869
16 NHLRC1 NM_198586.2(NHLRC1): c.969C> T (p.Ser323=) single nucleotide variant Benign rs142941035 GRCh38 Chromosome 6, 18121638: 18121638
17 NHLRC1 NM_198586.2(NHLRC1): c.681T> A (p.Asn227Lys) single nucleotide variant Uncertain significance rs140850172 GRCh37 Chromosome 6, 18122157: 18122157
18 NHLRC1 NM_198586.2(NHLRC1): c.681T> A (p.Asn227Lys) single nucleotide variant Uncertain significance rs140850172 GRCh38 Chromosome 6, 18121926: 18121926
19 NHLRC1 NM_198586.2(NHLRC1): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs138667242 GRCh37 Chromosome 6, 18122287: 18122287
20 NHLRC1 NM_198586.2(NHLRC1): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs138667242 GRCh38 Chromosome 6, 18122056: 18122056
21 NHLRC1 NM_198586.2(NHLRC1): c.513C> T (p.Ala171=) single nucleotide variant Benign/Likely benign rs148907696 GRCh37 Chromosome 6, 18122325: 18122325
22 NHLRC1 NM_198586.2(NHLRC1): c.513C> T (p.Ala171=) single nucleotide variant Benign/Likely benign rs148907696 GRCh38 Chromosome 6, 18122094: 18122094
23 NHLRC1 NM_198586.2(NHLRC1): c.478T> C (p.Cys160Arg) single nucleotide variant Uncertain significance rs200595273 GRCh37 Chromosome 6, 18122360: 18122360
24 NHLRC1 NM_198586.2(NHLRC1): c.478T> C (p.Cys160Arg) single nucleotide variant Uncertain significance rs200595273 GRCh38 Chromosome 6, 18122129: 18122129
25 NHLRC1 NM_198586.2(NHLRC1): c.422T> C (p.Val141Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143537405 GRCh37 Chromosome 6, 18122416: 18122416
26 NHLRC1 NM_198586.2(NHLRC1): c.422T> C (p.Val141Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143537405 GRCh38 Chromosome 6, 18122185: 18122185
27 NHLRC1 NM_198586.2(NHLRC1): c.386C> A (p.Pro129His) single nucleotide variant Conflicting interpretations of pathogenicity rs750465793 GRCh38 Chromosome 6, 18122221: 18122221
28 NHLRC1 NM_198586.2(NHLRC1): c.386C> A (p.Pro129His) single nucleotide variant Conflicting interpretations of pathogenicity rs750465793 GRCh37 Chromosome 6, 18122452: 18122452
29 NHLRC1 NM_198586.2(NHLRC1): c.103C> G (p.His35Asp) single nucleotide variant Uncertain significance rs752045674 GRCh37 Chromosome 6, 18122735: 18122735
30 NHLRC1 NM_198586.2(NHLRC1): c.103C> G (p.His35Asp) single nucleotide variant Uncertain significance rs752045674 GRCh38 Chromosome 6, 18122504: 18122504
31 NHLRC1 NM_198586.2(NHLRC1): c.76T> A (p.Cys26Ser) single nucleotide variant Pathogenic rs28940575 GRCh37 Chromosome 6, 18122762: 18122762
32 NHLRC1 NM_198586.2(NHLRC1): c.76T> A (p.Cys26Ser) single nucleotide variant Pathogenic rs28940575 GRCh38 Chromosome 6, 18122531: 18122531
33 NHLRC1 NM_198586.2(NHLRC1): c.205C> G (p.Pro69Ala) single nucleotide variant Pathogenic rs28940576 GRCh37 Chromosome 6, 18122633: 18122633
34 NHLRC1 NM_198586.2(NHLRC1): c.205C> G (p.Pro69Ala) single nucleotide variant Pathogenic rs28940576 GRCh38 Chromosome 6, 18122402: 18122402
35 NHLRC1 NM_198586.2(NHLRC1): c.468_469delAG (p.Gly158Argfs) deletion Pathogenic rs587776542 GRCh37 Chromosome 6, 18122369: 18122370
36 NHLRC1 NM_198586.2(NHLRC1): c.468_469delAG (p.Gly158Argfs) deletion Pathogenic rs587776542 GRCh38 Chromosome 6, 18122138: 18122139
37 NHLRC1 NM_198586.2(NHLRC1): c.992delG (p.Gly331Glufs) deletion Pathogenic rs587776543 GRCh37 Chromosome 6, 18121846: 18121846
38 NHLRC1 NM_198586.2(NHLRC1): c.992delG (p.Gly331Glufs) deletion Pathogenic rs587776543 GRCh38 Chromosome 6, 18121615: 18121615
39 NHLRC1 NM_198586.2(NHLRC1): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917875 GRCh37 Chromosome 6, 18122045: 18122045
40 NHLRC1 NM_198586.2(NHLRC1): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917875 GRCh38 Chromosome 6, 18121814: 18121814
41 NHLRC1 NM_198586.2(NHLRC1): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs121917876 GRCh37 Chromosome 6, 18122245: 18122245
42 NHLRC1 NM_198586.2(NHLRC1): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs121917876 GRCh38 Chromosome 6, 18122014: 18122014
43 NHLRC1 NM_198586.2(NHLRC1): c.923A> C (p.Asp308Ala) single nucleotide variant Pathogenic rs137852859 GRCh37 Chromosome 6, 18121915: 18121915
44 NHLRC1 NM_198586.2(NHLRC1): c.923A> C (p.Asp308Ala) single nucleotide variant Pathogenic rs137852859 GRCh38 Chromosome 6, 18121684: 18121684
45 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh37 Chromosome 6, 145948827: 145948827
46 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh38 Chromosome 6, 145627691: 145627691
47 EPM2A NM_005670.3(EPM2A): c.835G> A (p.Gly279Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137852917 GRCh37 Chromosome 6, 145948713: 145948713
48 EPM2A NM_005670.3(EPM2A): c.835G> A (p.Gly279Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137852917 GRCh38 Chromosome 6, 145627577: 145627577
49 EPM2A NM_005670.3(EPM2A): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs137852915 GRCh37 Chromosome 6, 146007412: 146007412
50 EPM2A NM_005670.3(EPM2A): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs137852915 GRCh38 Chromosome 6, 145686276: 145686276

Expression for Myoclonic Epilepsy of Lafora

Search GEO for disease gene expression data for Myoclonic Epilepsy of Lafora.

Pathways for Myoclonic Epilepsy of Lafora

Pathways related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 EPM2A GBE1 GYG1 GYG2 GYS1 GYS2
2
Show member pathways
13.39 EPM2A GYG1 GYG2 GYS1 GYS2 PPP1R3C
3
Show member pathways
12.66 EPM2A GBE1 GYG1 GYG2 GYS1 GYS2
4
Show member pathways
12.39 EPM2A GBE1 GYG1 GYG2 GYS1 GYS2
5
Show member pathways
11.85 GBE1 GYG1 GYG2 GYS1 GYS2
6
Show member pathways
11.65 GYS1 GYS2 PPP1R3C
7
Show member pathways
11.47 EPM2A GYG1 GYG2 GYS1 GYS2 PPP1R3C
8 11.28 GBE1 GYG1 GYG2 GYS1 GYS2
9
Show member pathways
10.64 EPM2A GYG1 GYG2 GYS1 GYS2 PPP1R3C
10
Show member pathways
10.01 GYG1 GYS1

GO Terms for Myoclonic Epilepsy of Lafora

Cellular components related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.4 CDKN3 CSTB EPM2A GBE1 GYG1 GYG2

Biological processes related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.5 EPM2A GBE1 PPP1R3C
2 protein dephosphorylation GO:0006470 9.43 CDKN3 EPM2A PPP1R3C
3 generation of precursor metabolites and energy GO:0006091 9.37 GBE1 GYS2
4 glycogen metabolic process GO:0005977 9.26 EPM2A GBE1 GYS1 PPP1R3C
5 glycogen biosynthetic process GO:0005978 9.23 EPM2A GBE1 GYG1 GYG2 GYS1 GYS2
6 negative regulation of proteolysis GO:0045861 9.16 CLN3 CSTB

Molecular functions related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 GBE1 GYG1 GYG2 GYS1 GYS2 NHLRC1
2 protein serine/threonine phosphatase activity GO:0004722 9.54 CDKN3 EPM2A PPP1R3C
3 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.46 CDKN3 EPM2A
4 glycogen (starch) synthase activity GO:0004373 9.32 GYS1 GYS2
5 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.26 GYS1 GYS2
6 glycogenin glucosyltransferase activity GO:0008466 9.16 GYG1 GYG2
7 glucose binding GO:0005536 9.1 GYS1
8 transferase activity, transferring glycosyl groups GO:0016757 9.02 GBE1 GYG1 GYG2 GYS1 GYS2
9 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 8.96 GYG1 GYG2

Sources for Myoclonic Epilepsy of Lafora

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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