MCID: MYC079
MIFTS: 59

Myoclonic Epilepsy of Lafora

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myoclonic Epilepsy of Lafora

MalaCards integrated aliases for Myoclonic Epilepsy of Lafora:

Name: Myoclonic Epilepsy of Lafora 57 12 53 75
Lafora Disease 57 12 76 53 59 75 37 29 55 6 44 15 73
Epilepsy, Progressive Myoclonic 2b 57 29 6 73
Epm2 57 53 59 75
Melf 57 53 75
Epilepsy, Progressive Myoclonic 2a 57 13
Lafora's Disease 12 75
Epm2a 57 75
Epilepsy, Progressive Myoclonic, 2a; Epm2a 57
Progressive Myoclonic Epilepsy Lafora Type 75
Lafora Progressive Myoclonic Epilepsy 12
Progressive Myoclonic Epilepsy Type 2 59
Progressive Myoclonus Epilepsy Type 2 59
Epilepsy, Progressive Myoclonic, 2a 57
Epilepsy, Progressive Myoclonic 2 75
Progressive Myoclonic Epilepsy 2a 75
Progressive Myoclonic Epilepsy 2b 75
Epilepsy Progressive Myoclonic 2 53
Progressive Myoclonic Epilepsy 2 75
Epilepsy, Myoclonic, of Lafora 40
Lafora Body Disease; Lbd 57
Lafora Body Disorder 53
Lafora Body Disease 57
Pme Type 2 59
Epm2b 75
Lbd 57
Ld 75

Characteristics:

Orphanet epidemiological data:

59
lafora disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent; Age of death: young Adult;

OMIM:

57
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:

32
myoclonic epilepsy of lafora:
Onset and clinical course rapidly progressive
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 254780
Disease Ontology 12 DOID:3534
MeSH 44 D020192
NCIt 50 C84804
SNOMED-CT 68 230425004
Orphanet 59 ORPHA501
MESH via Orphanet 45 D020192
UMLS via Orphanet 74 C0751783
ICD10 via Orphanet 34 G40.3
KEGG 37 H01994

Summaries for Myoclonic Epilepsy of Lafora

OMIM : 57 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 epilepsy and lipoprotein types--ld system, and has symptoms including myoclonus, hallucinations, visual and unspecified visual loss. An important gene associated with Myoclonic Epilepsy of Lafora is EPM2A (EPM2A, Laforin Glucan Phosphatase), 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 visual loss and psychosis

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Wikipedia : 76 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 66)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.0 CSTB EPM2A NHLRC1
2 lipoprotein types--ld system 11.9
3 loeys-dietz syndrome 11.7
4 epilepsy, progressive myoclonic, 10 11.6
5 progressive myoclonus epilepsy, lafora type 11.2
6 loeys-dietz syndrome 1 11.1
7 shprintzen-goldberg craniosynostosis syndrome 11.0
8 legionnaire disease 11.0
9 recombination rate quantitative trait locus 1 11.0
10 dementia, lewy body 10.9
11 loeys-dietz syndrome 5 10.9
12 lactate dehydrogenase deficiency 10.9
13 adenocarcinoma 10.2
14 fasting hypoglycemia 10.1 GYS1 GYS2
15 glucocorticoid resistance, generalized 10.1
16 endometrial adenocarcinoma 10.1
17 myoclonic epilepsy of unverricht and lundborg 10.0 CSTB EPM2A
18 type i 9.9
19 myelodysplastic syndrome 9.9
20 acute leukemia 9.9
21 learning disability 9.9
22 mycobacterium marinum 9.9
23 distichiasis 9.8
24 lymphedema-distichiasis syndrome 9.8
25 small cell cancer of the lung 9.8
26 lung cancer 9.8
27 lactate dehydrogenase b deficiency 9.8
28 lymphedema 9.8
29 dyslexia 9.8
30 dysgraphia 9.8
31 leukemia, chronic lymphocytic 2 9.7
32 cerebral cavernous malformations 9.7
33 attention deficit-hyperactivity disorder 9.7
34 leukemia, chronic lymphocytic 9.7
35 neurofibromatosis, type i 9.7
36 neurofibromatosis, type iv, of riccardi 9.7
37 spondylolisthesis 9.7
38 renal hypodysplasia/aplasia 1 9.7
39 testicular germ cell tumor 9.7
40 testicular germ cell tumor 1 9.7
41 fragile x syndrome 9.7
42 hemophilia a 9.7
43 cerebral cavernous malformations 3 9.7
44 leukemia 9.7
45 lennox-gastaut syndrome 9.7
46 lymphoma 9.7
47 lymphocytic choriomeningitis 9.7
48 hypermobility syndrome 9.7
49 cerebritis 9.7
50 turner syndrome 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Myoclonic Epilepsy of Lafora:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 visual loss 32 HP:0000572
2 psychosis 32 HP:0000709
3 dementia 32 HP:0000726
4 cutaneous photosensitivity 32 HP:0000992
5 gait disturbance 32 HP:0001288
6 myoclonus 32 HP:0001336
7 hepatic failure 32 HP:0001399
8 abnormality of metabolism/homeostasis 32 HP:0001939
9 absence seizures 32 HP:0002121
10 generalized myoclonic seizures 32 HP:0002123
11 apraxia 32 HP:0002186
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
16 simple partial occipital seizures 32 HP:0025121

UMLS symptoms related to Myoclonic Epilepsy of Lafora:


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

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 EPM2A GBE1 GYS1 GYS2 NHLRC1 PPP1R3C
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 Nutraceutical Phase 4
3 Soy Bean Nutraceutical Phase 4
4 insulin
5 Insulin, Globin Zinc

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

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 29 EPM2A NHLRC1
2 Epilepsy, Progressive Myoclonic 2b 29

Anatomical Context for Myoclonic Epilepsy of Lafora

MalaCards organs/tissues related to Myoclonic Epilepsy of Lafora:

41
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 146)
# Title Authors Year
1
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease. ( 28536304 )
2017
2
Clinical and genetic studies in patients with Lafora disease from Pakistan. ( 28131202 )
2017
3
A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood. ( 28818698 )
2017
4
Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family. ( 28934672 )
2017
5
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. ( 28800070 )
2017
6
Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease. ( 28973665 )
2017
7
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease. ( 28098937 )
2017
8
Lafora disease. ( 27702709 )
2016
9
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
10
Efficacy and tolerability of perampanel in ten patients with Lafora disease. ( 27459034 )
2016
11
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. ( 27574708 )
2016
12
Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. ( 26648032 )
2015
13
Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease. ( 25627694 )
2015
14
Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. ( 25544560 )
2015
15
Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease. ( 25416783 )
2015
16
Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin. ( 25683376 )
2015
17
Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. ( 26102034 )
2015
18
PTG depletion rescues malin-deficient Lafora disease in mouse. ( 24419970 )
2014
19
Lafora disease: psychiatric manifestations, cognitive decline, and visual hallucinations. ( 25481721 )
2014
20
Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation. ( 25015673 )
2014
21
Are c.436G>A mutations less severe forms of Lafora disease? A case report. ( 25667860 )
2014
22
Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel. ( 25667898 )
2014
23
The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease. ( 24430976 )
2014
24
Increased Oxidative Stress and Impaired Antioxidant Response in Lafora Disease. ( 24838580 )
2014
25
Lafora Disease With Novel Autopsy Findings: A Case Report With Endocrine Involvement and Literature Review. ( 25217339 )
2014
26
Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease. ( 24472629 )
2014
27
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings. ( 25270369 )
2014
28
Late onset Lafora disease and novel EPM2A mutations: Breaking paradigms. ( 25246353 )
2014
29
Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells. ( 23850970 )
2013
30
Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate neuronatin-aggregates as a common downstream participant in neuronal loss. ( 24345642 )
2013
31
Inhibiting glycogen synthesis prevents lafora disease in a mouse model. ( 23913475 )
2013
32
Laforin prevents stress-induced polyglucosan body formation and lafora disease progression in neurons. ( 23546741 )
2013
33
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. ( 23663739 )
2013
34
A bioassay for Lafora disease and laforin glucan phosphatase activity. ( 24012855 )
2013
35
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. ( 22703635 )
2013
36
Exploring the structural insights on human laforin mutation K87A in Lafora disease--a molecular dynamics study. ( 23904258 )
2013
37
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease. ( 24131995 )
2013
38
[Lafora disease: histopathological study of axillary cutaneous biopsy]. ( 23582833 )
2013
39
Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease. ( 23408434 )
2013
40
Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene. ( 23317923 )
2013
41
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease. ( 22669944 )
2012
42
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease. ( 22361617 )
2012
43
Lafora disease E3 ubiquitin ligase malin is recruited to the processing bodies and regulates the microRNA-mediated gene silencing process via the decapping enzyme Dcp1a. ( 23131811 )
2012
44
Phosphorylation prevents polyglucosan transport in Lafora disease. ( 22622857 )
2012
45
Autophagy defects in Lafora disease: cause or consequence? ( 22301990 )
2012
46
Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. ( 21965301 )
2012
47
Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. ( 22047982 )
2012
48
Presentation of an unusual patient with Lafora disease. ( 22425593 )
2012
49
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level. ( 21798009 )
2011
50
A PTG variant contributes to a milder phenotype in Lafora disease. ( 21738631 )
2011

Variations for Myoclonic Epilepsy of Lafora

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

75 (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
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 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
41 NHLRC1 p.Leu261Pro VAR_070794 rs879745047

ClinVar genetic disease variations for Myoclonic Epilepsy of Lafora:

6
(show top 50) (show all 132)
# 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.76T> A (p.Cys26Ser) single nucleotide variant Pathogenic rs28940575 GRCh38 Chromosome 6, 18122531: 18122531
3 NHLRC1 NM_198586.2(NHLRC1): c.205C> G (p.Pro69Ala) single nucleotide variant Pathogenic rs28940576 GRCh37 Chromosome 6, 18122633: 18122633
4 NHLRC1 NM_198586.2(NHLRC1): c.205C> G (p.Pro69Ala) single nucleotide variant Pathogenic rs28940576 GRCh38 Chromosome 6, 18122402: 18122402
5 NHLRC1 NM_198586.2(NHLRC1): c.468_469delAG (p.Gly158Argfs) deletion Pathogenic rs587776542 GRCh37 Chromosome 6, 18122369: 18122370
6 NHLRC1 NM_198586.2(NHLRC1): c.468_469delAG (p.Gly158Argfs) deletion Pathogenic rs587776542 GRCh38 Chromosome 6, 18122138: 18122139
7 NHLRC1 NM_198586.2(NHLRC1): c.992delG (p.Gly331Glufs) deletion Pathogenic rs587776543 GRCh37 Chromosome 6, 18121846: 18121846
8 NHLRC1 NM_198586.2(NHLRC1): c.992delG (p.Gly331Glufs) deletion Pathogenic rs587776543 GRCh38 Chromosome 6, 18121615: 18121615
9 NHLRC1 NM_198586.2(NHLRC1): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917875 GRCh37 Chromosome 6, 18122045: 18122045
10 NHLRC1 NM_198586.2(NHLRC1): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917875 GRCh38 Chromosome 6, 18121814: 18121814
11 NHLRC1 NM_198586.2(NHLRC1): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs121917876 GRCh37 Chromosome 6, 18122245: 18122245
12 NHLRC1 NM_198586.2(NHLRC1): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs121917876 GRCh38 Chromosome 6, 18122014: 18122014
13 NHLRC1 NM_198586.2(NHLRC1): c.923A> C (p.Asp308Ala) single nucleotide variant Pathogenic rs137852859 GRCh37 Chromosome 6, 18121915: 18121915
14 NHLRC1 NM_198586.2(NHLRC1): c.923A> C (p.Asp308Ala) single nucleotide variant Pathogenic rs137852859 GRCh38 Chromosome 6, 18121684: 18121684
15 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh37 Chromosome 6, 145948827: 145948827
16 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh38 Chromosome 6, 145627691: 145627691
17 EPM2A NM_005670.3(EPM2A): c.835G> A (p.Gly279Ser) single nucleotide variant Pathogenic rs137852917 GRCh37 Chromosome 6, 145948713: 145948713
18 EPM2A NM_005670.3(EPM2A): c.835G> A (p.Gly279Ser) single nucleotide variant Pathogenic rs137852917 GRCh38 Chromosome 6, 145627577: 145627577
19 EPM2A NM_005670.3(EPM2A): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs137852915 GRCh37 Chromosome 6, 146007412: 146007412
20 EPM2A NM_005670.3(EPM2A): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs137852915 GRCh38 Chromosome 6, 145686276: 145686276
21 EPM2A NM_005670.3(EPM2A): c.335dupA (p.Tyr112Terfs) duplication Pathogenic rs587776553 GRCh37 Chromosome 6, 146007399: 146007399
22 EPM2A NM_005670.3(EPM2A): c.335dupA (p.Tyr112Terfs) duplication Pathogenic rs587776553 GRCh38 Chromosome 6, 145686263: 145686263
23 EPM2A NM_005670.3(EPM2A): c.950dupT (p.Gln319Profs) duplication Pathogenic rs587776554 GRCh37 Chromosome 6, 145948598: 145948598
24 EPM2A NM_005670.3(EPM2A): c.950dupT (p.Gln319Profs) duplication Pathogenic rs587776554 GRCh38 Chromosome 6, 145627462: 145627462
25 EPM2A NM_005670.3(EPM2A): c.94T> G (p.Trp32Gly) single nucleotide variant Likely pathogenic rs104893955 GRCh37 Chromosome 6, 146056541: 146056541
26 EPM2A NM_005670.3(EPM2A): c.94T> G (p.Trp32Gly) single nucleotide variant Likely pathogenic rs104893955 GRCh38 Chromosome 6, 145735405: 145735405
27 EPM2A NM_005670.3(EPM2A): c.136G> C (p.Ala46Pro) single nucleotide variant Benign rs374338349 GRCh37 Chromosome 6, 146056499: 146056499
28 EPM2A NM_005670.3(EPM2A): c.136G> C (p.Ala46Pro) single nucleotide variant Benign rs374338349 GRCh38 Chromosome 6, 145735363: 145735363
29 NHLRC1 NM_198586.2(NHLRC1): c.436G> A (p.Asp146Asn) single nucleotide variant Pathogenic rs769301934 GRCh37 Chromosome 6, 18122402: 18122402
30 NHLRC1 NM_198586.2(NHLRC1): c.436G> A (p.Asp146Asn) single nucleotide variant Pathogenic rs769301934 GRCh38 Chromosome 6, 18122171: 18122171
31 NHLRC1 NM_198586.2(NHLRC1): c.32C> A (p.Ala11Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139029314 GRCh37 Chromosome 6, 18122806: 18122806
32 NHLRC1 NM_198586.2(NHLRC1): c.32C> A (p.Ala11Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139029314 GRCh38 Chromosome 6, 18122575: 18122575
33 NHLRC1 NM_198586.2(NHLRC1): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs794726964 GRCh37 Chromosome 6, 18122174: 18122174
34 NHLRC1 NM_198586.2(NHLRC1): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs794726964 GRCh38 Chromosome 6, 18121943: 18121943
35 NHLRC1 NM_198586.2(NHLRC1): c.46A> G (p.Met16Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146636139 GRCh37 Chromosome 6, 18122792: 18122792
36 NHLRC1 NM_198586.2(NHLRC1): c.46A> G (p.Met16Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146636139 GRCh38 Chromosome 6, 18122561: 18122561
37 NHLRC1 NM_198586.2(NHLRC1): c.1091C> T (p.Ser364Leu) single nucleotide variant Likely benign rs78324544 GRCh37 Chromosome 6, 18121747: 18121747
38 NHLRC1 NM_198586.2(NHLRC1): c.1091C> T (p.Ser364Leu) single nucleotide variant Likely benign rs78324544 GRCh38 Chromosome 6, 18121516: 18121516
39 NHLRC1 NM_198586.2(NHLRC1): c.1090T> A (p.Ser364Thr) single nucleotide variant Uncertain significance rs370044232 GRCh37 Chromosome 6, 18121748: 18121748
40 NHLRC1 NM_198586.2(NHLRC1): c.1090T> A (p.Ser364Thr) single nucleotide variant Uncertain significance rs370044232 GRCh38 Chromosome 6, 18121517: 18121517
41 NHLRC1 NM_198586.2(NHLRC1): c.969C> T (p.Ser323=) single nucleotide variant Benign rs142941035 GRCh37 Chromosome 6, 18121869: 18121869
42 NHLRC1 NM_198586.2(NHLRC1): c.969C> T (p.Ser323=) single nucleotide variant Benign rs142941035 GRCh38 Chromosome 6, 18121638: 18121638
43 NHLRC1 NM_198586.2(NHLRC1): c.681T> A (p.Asn227Lys) single nucleotide variant Uncertain significance rs140850172 GRCh37 Chromosome 6, 18122157: 18122157
44 NHLRC1 NM_198586.2(NHLRC1): c.681T> A (p.Asn227Lys) single nucleotide variant Uncertain significance rs140850172 GRCh38 Chromosome 6, 18121926: 18121926
45 NHLRC1 NM_198586.2(NHLRC1): c.513C> T (p.Ala171=) single nucleotide variant Benign/Likely benign rs148907696 GRCh37 Chromosome 6, 18122325: 18122325
46 NHLRC1 NM_198586.2(NHLRC1): c.513C> T (p.Ala171=) single nucleotide variant Benign/Likely benign rs148907696 GRCh38 Chromosome 6, 18122094: 18122094
47 NHLRC1 NM_198586.2(NHLRC1): c.478T> C (p.Cys160Arg) single nucleotide variant Uncertain significance rs200595273 GRCh37 Chromosome 6, 18122360: 18122360
48 NHLRC1 NM_198586.2(NHLRC1): c.478T> C (p.Cys160Arg) single nucleotide variant Uncertain significance rs200595273 GRCh38 Chromosome 6, 18122129: 18122129
49 NHLRC1 NM_198586.2(NHLRC1): c.422T> C (p.Val141Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143537405 GRCh37 Chromosome 6, 18122416: 18122416
50 NHLRC1 NM_198586.2(NHLRC1): c.422T> C (p.Val141Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143537405 GRCh38 Chromosome 6, 18122185: 18122185

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 9.54 EPM2A GBE1 PPP1R3C
2 protein dephosphorylation GO:0006470 9.5 CDKN3 EPM2A PPP1R3C
3 generation of precursor metabolites and energy GO:0006091 9.4 GBE1 GYS2
4 glycogen biosynthetic process GO:0005978 9.28 EPM2A GBE1 GYG1 GYG2 GYS1 GYS2
5 negative regulation of proteolysis GO:0045861 9.26 CLN3 CSTB
6 glycogen metabolic process GO:0005977 9.26 EPM2A GBE1 GYS1 PPP1R3C
7 glycogen catabolic process GO:0005980 9.16 GYG1 GYG2

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 9.88 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 9.43 CDKN3 EPM2A
4 glycogenin glucosyltransferase activity GO:0008466 9.32 GYG1 GYG2
5 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 9.26 GYG1 GYG2
6 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.16 GYS1 GYS2
7 transferase activity, transferring glycosyl groups GO:0016757 9.02 GBE1 GYG1 GYG2 GYS1 GYS2
8 glycogen (starch) synthase activity GO:0004373 8.96 GYS1 GYS2

Sources for Myoclonic Epilepsy of Lafora

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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