EPM10
MCID: EPL188
MIFTS: 30

Epilepsy, Progressive Myoclonic, 10 (EPM10)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 10

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 10:

Name: Epilepsy, Progressive Myoclonic, 10 57 29 6
Early-Onset Lafora Body Disease 59 74
Epm10 57 74
Epilepsy, Progressive Myoclonic 10 74

Characteristics:

Orphanet epidemiological data:

59
early-onset lafora body disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: Not yet documented;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in first decade
protracted course
some patients become bedridden
one consanguineous family has been reported (last curated november 2015)


HPO:

32
epilepsy, progressive myoclonic, 10:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D020191
ICD10 via Orphanet 34 G40.3
Orphanet 59 ORPHA324290

Summaries for Epilepsy, Progressive Myoclonic, 10

OMIM : 57 Progressive myoclonic epilepsy-10 is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (616640)

MalaCards based summary : Epilepsy, Progressive Myoclonic, 10, also known as early-onset lafora body disease, is related to myoclonus and ataxia and myoclonic epilepsy of lafora. An important gene associated with Epilepsy, Progressive Myoclonic, 10 is PRDM8 (PR/SET Domain 8). Affiliated tissues include skeletal muscle and bone, and related phenotypes are myoclonus and lafora bodies

UniProtKB/Swiss-Prot : 74 Epilepsy, progressive myoclonic 10: A progressive myoclonus epilepsy characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients.

Related Diseases for Epilepsy, Progressive Myoclonic, 10

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic, 10:



Diseases related to Epilepsy, Progressive Myoclonic, 10

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 10

Human phenotypes related to Epilepsy, Progressive Myoclonic, 10:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
2 lafora bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0100318
3 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
7 mental deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001268
8 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
9 spastic tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001285
10 mutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002300
11 paranoia 59 32 very rare (1%) Very rare (<4-1%) HP:0011999
12 behavioral abnormality 59 Frequent (79-30%)
13 hallucinations 32 HP:0000738
14 spastic tetraplegia 32 HP:0002510
15 generalized myoclonic seizures 32 HP:0002123
16 psychosis 32 HP:0000709
17 dementia 32 HP:0000726
18 progressive cerebellar ataxia 32 HP:0002073
19 urinary incontinence 32 HP:0000020
20 spastic ataxia 32 HP:0002497

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
hyperreflexia
cognitive impairment
more
Genitourinary Bladder:
incontinence

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
psychosis
paranoia
outbursts

Muscle Soft Tissue:
lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy
vacuoles in the myofiber cytoplasm

Clinical features from OMIM:

616640

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 10

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 10

Genetic Tests for Epilepsy, Progressive Myoclonic, 10

Genetic tests related to Epilepsy, Progressive Myoclonic, 10:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic, 10 29 PRDM8

Anatomical Context for Epilepsy, Progressive Myoclonic, 10

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 10:

41
Skeletal Muscle, Bone

Publications for Epilepsy, Progressive Myoclonic, 10

Articles related to Epilepsy, Progressive Myoclonic, 10:

# Title Authors PMID Year
1
Early-onset Lafora body disease. 8 71
22961547 2012
2
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. 8
15304597 2004
3
Characterization of human bone marrow-derived closed circular DNA clones. 38
7688551 1993

Variations for Epilepsy, Progressive Myoclonic, 10

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 10:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRDM8 NM_020226.3(PRDM8): c.781T> C (p.Phe261Leu) single nucleotide variant Pathogenic rs863225286 4:81123397-81123397 4:80202243-80202243
2 PRDM8 NM_020226.3(PRDM8): c.543A> T (p.Arg181Ser) single nucleotide variant Uncertain significance 4:81123159-81123159 4:80202005-80202005
3 PRDM8 NM_020226.3(PRDM8): c.1147C> T (p.Arg383Cys) single nucleotide variant Uncertain significance 4:81123763-81123763 4:80202609-80202609
4 PRDM8 NM_020226.3(PRDM8): c.1450G> A (p.Gly484Ser) single nucleotide variant Uncertain significance 4:81124066-81124066 4:80202912-80202912
5 PRDM8 NM_020226.3(PRDM8): c.2057C> G (p.Thr686Ser) single nucleotide variant Uncertain significance 4:81124673-81124673 4:80203519-80203519
6 PRDM8 NM_020226.3(PRDM8): c.998G> T (p.Arg333Leu) single nucleotide variant Uncertain significance 4:81123614-81123614 4:80202460-80202460
7 PRDM8 NM_020226.3(PRDM8): c.164T> A (p.Ile55Lys) single nucleotide variant Uncertain significance 4:81121398-81121398 4:80200244-80200244
8 PRDM8 NM_020226.3(PRDM8): c.506C> T (p.Pro169Leu) single nucleotide variant Uncertain significance 4:81123122-81123122 4:80201968-80201968
9 PRDM8 NM_020226.3(PRDM8): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance 4:81123826-81123826 4:80202672-80202672
10 PRDM8 NM_020226.3(PRDM8): c.1436G> A (p.Gly479Asp) single nucleotide variant Uncertain significance 4:81124052-81124052 4:80202898-80202898
11 PRDM8 NM_020226.3(PRDM8): c.1468C> G (p.Gln490Glu) single nucleotide variant Uncertain significance 4:81124084-81124084 4:80202930-80202930
12 PRDM8 NM_020226.3(PRDM8): c.1650G> C (p.Gln550His) single nucleotide variant Uncertain significance 4:81124266-81124266 4:80203112-80203112
13 PRDM8 NM_020226.3(PRDM8): c.1651G> A (p.Gly551Arg) single nucleotide variant Uncertain significance 4:81124267-81124267 4:80203113-80203113
14 PRDM8 NM_020226.3(PRDM8): c.1721C> G (p.Pro574Arg) single nucleotide variant Uncertain significance 4:81124337-81124337 4:80203183-80203183
15 PRDM8 NM_020226.3(PRDM8): c.1767_1775dup (p.Ala596_Ala598dup) duplication Uncertain significance 4:81124377-81124378 4:80203229-80203237
16 PRDM8 NM_020226.3(PRDM8): c.1805_1810AGCTGC[1] (p.602_603QL[1]) short repeat Uncertain significance 4:81124418-81124423 4:80203267-80203272
17 PRDM8 NM_020226.3(PRDM8): c.1813C> G (p.Leu605Val) single nucleotide variant Uncertain significance 4:81124429-81124429 4:80203275-80203275
18 PRDM8 NM_020226.3(PRDM8): c.1951_1952delinsAT (p.Glu651Met) indel Uncertain significance 4:81124567-81124568 4:80203413-80203414
19 PRDM8 NM_020226.3(PRDM8): c.589G> T (p.Val197Leu) single nucleotide variant Uncertain significance 4:81123205-81123205 4:80202051-80202051
20 PRDM8 NM_020226.3(PRDM8): c.647A> T (p.Gln216Leu) single nucleotide variant Uncertain significance 4:81123263-81123263 4:80202109-80202109
21 PRDM8 NM_020226.3(PRDM8): c.865A> G (p.Ser289Gly) single nucleotide variant Uncertain significance 4:81123481-81123481 4:80202327-80202327
22 PRDM8 NM_020226.3(PRDM8): c.884A> C (p.His295Pro) single nucleotide variant Uncertain significance 4:81123500-81123500 4:80202346-80202346
23 PRDM8 NM_020226.3(PRDM8): c.1075G> A (p.Gly359Ser) single nucleotide variant Uncertain significance 4:81123691-81123691 4:80202537-80202537
24 PRDM8 NM_020226.3(PRDM8): c.1426G> A (p.Gly476Ser) single nucleotide variant Uncertain significance 4:81124042-81124042 4:80202888-80202888
25 PRDM8 NM_020226.3(PRDM8): c.1966C> T (p.Pro656Ser) single nucleotide variant Uncertain significance 4:81124582-81124582 4:80203428-80203428
26 PRDM8 NM_020226.3(PRDM8): c.1643A> G (p.Lys548Arg) single nucleotide variant Uncertain significance 4:81124259-81124259 4:80203105-80203105
27 PRDM8 NM_020226.3(PRDM8): c.1474G> A (p.Ala492Thr) single nucleotide variant Uncertain significance 4:81124090-81124090 4:80202936-80202936
28 PRDM8 NM_020226.3(PRDM8): c.622G> A (p.Gly208Ser) single nucleotide variant Uncertain significance rs761182081 4:81123238-81123238 4:80202084-80202084
29 PRDM8 NM_020226.3(PRDM8): c.687A> C (p.Lys229Asn) single nucleotide variant Uncertain significance rs1553905669 4:81123303-81123303 4:80202149-80202149
30 PRDM8 NM_020226.3(PRDM8): c.1390C> T (p.Pro464Ser) single nucleotide variant Uncertain significance rs201251555 4:81124006-81124006 4:80202852-80202852
31 PRDM8 NM_020226.3(PRDM8): c.1838C> G (p.Pro613Arg) single nucleotide variant Uncertain significance rs1553906552 4:81124454-81124454 4:80203300-80203300
32 PRDM8 NM_020226.3(PRDM8): c.412C> T (p.Leu138Phe) single nucleotide variant Uncertain significance rs775975261 4:81122636-81122636 4:80201482-80201482
33 PRDM8 NM_020226.3(PRDM8): c.850_861del (p.Ser284_Ser287del) deletion Uncertain significance rs1455395711 4:81123466-81123477 4:80202312-80202323
34 PRDM8 NM_020226.3(PRDM8): c.1367G> A (p.Arg456Lys) single nucleotide variant Uncertain significance rs940171879 4:81123983-81123983 4:80202829-80202829
35 PRDM8 NM_020226.3(PRDM8): c.1955A> G (p.Tyr652Cys) single nucleotide variant Uncertain significance rs758969495 4:81124571-81124571 4:80203417-80203417
36 PRDM8 NM_020226.3(PRDM8): c.26G> A (p.Gly9Asp) single nucleotide variant Uncertain significance rs756625230 4:81121260-81121260 4:80200106-80200106
37 PRDM8 NM_020226.3(PRDM8): c.634_636CAG[7] (p.Gln217dup) short repeat Uncertain significance rs748593482 4:81123265-81123267 4:80202111-80202113
38 PRDM8 NM_020226.3(PRDM8): c.1466G> A (p.Gly489Asp) single nucleotide variant Uncertain significance rs1379672825 4:81124082-81124082 4:80202928-80202928
39 PRDM8 NM_020226.3(PRDM8): c.1530G> T (p.Gln510His) single nucleotide variant Uncertain significance rs750341856 4:81124146-81124146 4:80202992-80202992
40 PRDM8 NM_020226.3(PRDM8): c.721C> T (p.Pro241Ser) single nucleotide variant Uncertain significance rs201806195 4:81123337-81123337 4:80202183-80202183
41 PRDM8 NM_020226.3(PRDM8): c.329G> C (p.Gly110Ala) single nucleotide variant Uncertain significance rs200777615 4:81122553-81122553 4:80201399-80201399
42 PRDM8 NM_020226.3(PRDM8): c.868G> A (p.Gly290Ser) single nucleotide variant Uncertain significance rs756736858 4:81123484-81123484 4:80202330-80202330
43 PRDM8 NM_020226.3(PRDM8): c.1225G> A (p.Val409Ile) single nucleotide variant Uncertain significance rs1483533129 4:81123841-81123841 4:80202687-80202687
44 PRDM8 NM_020226.3(PRDM8): c.1412G> A (p.Ser471Asn) single nucleotide variant Uncertain significance rs575791037 4:81124028-81124028 4:80202874-80202874
45 PRDM8 NM_020226.3(PRDM8): c.1573C> G (p.Pro525Ala) single nucleotide variant Uncertain significance rs575215294 4:81124189-81124189 4:80203035-80203035
46 PRDM8 NM_020226.3(PRDM8): c.847C> A (p.Leu283Ile) single nucleotide variant Uncertain significance rs1211529205 4:81123463-81123463 4:80202309-80202309
47 PRDM8 NM_020226.3(PRDM8): c.985C> T (p.Leu329=) single nucleotide variant Likely benign rs560049733 4:81123601-81123601 4:80202447-80202447
48 PRDM8 NM_020226.3(PRDM8): c.1674T> C (p.Gly558=) single nucleotide variant Likely benign rs774459714 4:81124290-81124290 4:80203136-80203136
49 PRDM8 NM_020226.3(PRDM8): c.1812G> A (p.Gln604=) single nucleotide variant Likely benign rs1553906523 4:81124428-81124428 4:80203274-80203274
50 PRDM8 NM_020226.3(PRDM8): c.654G> A (p.Glu218=) single nucleotide variant Likely benign rs1553905625 4:81123270-81123270 4:80202116-80202116

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 10:

74
# Symbol AA change Variation ID SNP ID
1 PRDM8 p.Phe261Leu VAR_075044 rs863225286

Expression for Epilepsy, Progressive Myoclonic, 10

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