EPM10
MCID: EPL188
MIFTS: 31

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 56 29 6
Early-Onset Lafora Body Disease 58 73
Epm10 56 73
Epilepsy, Progressive Myoclonic 10 73

Characteristics:

Orphanet epidemiological data:

58
early-onset lafora body disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: Not yet documented;

OMIM:

56
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:

31
epilepsy, progressive myoclonic, 10:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic, 10

OMIM : 56 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 progressive myoclonus epilepsy 10 and myoclonus and ataxia. 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 : 73 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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
2 lafora bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0100318
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
6 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
7 spastic tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001285
8 confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001289
9 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
10 seizure 31 occasional (7.5%) HP:0001250
11 paranoia 58 31 very rare (1%) Very rare (<4-1%) HP:0011999
12 behavioral abnormality 58 Frequent (79-30%)
13 hallucinations 31 HP:0000738
14 seizures 58 Occasional (29-5%)
15 spastic tetraplegia 31 HP:0002510
16 psychosis 31 HP:0000709
17 dementia 31 HP:0000726
18 urinary incontinence 31 HP:0000020
19 spastic ataxia 31 HP:0002497
20 progressive cerebellar ataxia 31 HP:0002073
21 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
psychosis
paranoia
outbursts

Genitourinary Bladder:
incontinence

Neurologic Central Nervous System:
cognitive impairment
spasticity
ataxia
myoclonus
hyperreflexia
more
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:

40
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. 6 56
22961547 2012
2
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. 56
15304597 2004
3
Characterization of human bone marrow-derived closed circular DNA clones. 61
7688551 1993

Variations for Epilepsy, Progressive Myoclonic, 10

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

6 (show top 50) (show all 98) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRDM8 NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu)SNV Pathogenic 217865 rs863225286 4:81123397-81123397 4:80202243-80202243
2 PRDM8 NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn)SNV Uncertain significance 542337 rs575791037 4:81124028-81124028 4:80202874-80202874
3 PRDM8 NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala)SNV Uncertain significance 542339 rs575215294 4:81124189-81124189 4:80203035-80203035
4 PRDM8 NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile)SNV Uncertain significance 542334 rs1211529205 4:81123463-81123463 4:80202309-80202309
5 PRDM8 NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser)SNV Uncertain significance 475681 rs761182081 4:81123238-81123238 4:80202084-80202084
6 PRDM8 NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn)SNV Uncertain significance 475683 rs1553905669 4:81123303-81123303 4:80202149-80202149
7 PRDM8 NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg)SNV Uncertain significance 475675 rs1553906552 4:81124454-81124454 4:80203300-80203300
8 PRDM8 NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe)SNV Uncertain significance 475680 rs775975261 4:81122636-81122636 4:80201482-80201482
9 PRDM8 NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del)deletion Uncertain significance 475685 rs1455395711 4:81123465-81123476 4:80202311-80202322
10 PRDM8 NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys)SNV Uncertain significance 475667 rs940171879 4:81123983-81123983 4:80202829-80202829
11 PRDM8 NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys)SNV Uncertain significance 475677 rs758969495 4:81124571-81124571 4:80203417-80203417
12 PRDM8 NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp)SNV Uncertain significance 475679 rs756625230 4:81121260-81121260 4:80200106-80200106
13 PRDM8 NM_001099403.2(PRDM8):c.634_636CAG[7] (p.Gln217dup)short repeat Uncertain significance 475682 rs748593482 4:81123249-81123250 4:80202095-80202096
14 PRDM8 NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser)SNV Uncertain significance 565549 rs377755509 4:81123159-81123159 4:80202005-80202005
15 PRDM8 NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys)SNV Uncertain significance 576200 rs775117967 4:81123763-81123763 4:80202609-80202609
16 PRDM8 NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser)SNV Uncertain significance 582136 rs1014065137 4:81124066-81124066 4:80202912-80202912
17 PRDM8 NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser)SNV Uncertain significance 578826 rs1560481395 4:81124673-81124673 4:80203519-80203519
18 PRDM8 NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu)SNV Uncertain significance 575961 rs1323000516 4:81123614-81123614 4:80202460-80202460
19 PRDM8 NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys)SNV Uncertain significance 565874 rs762557383 4:81121398-81121398 4:80200244-80200244
20 PRDM8 NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu)SNV Uncertain significance 574303 rs775462847 4:81123122-81123122 4:80201968-80201968
21 PRDM8 NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr)SNV Uncertain significance 581400 rs1422650743 4:81123826-81123826 4:80202672-80202672
22 PRDM8 NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp)SNV Uncertain significance 577000 rs1560479017 4:81124052-81124052 4:80202898-80202898
23 PRDM8 NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu)SNV Uncertain significance 570269 rs1560479209 4:81124084-81124084 4:80202930-80202930
24 PRDM8 NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr)SNV Uncertain significance 581117 rs1560479219 4:81124090-81124090 4:80202936-80202936
25 PRDM8 NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg)SNV Uncertain significance 567227 rs1320311514 4:81124259-81124259 4:80203105-80203105
26 PRDM8 NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His)SNV Uncertain significance 572832 rs776091682 4:81124266-81124266 4:80203112-80203112
27 PRDM8 NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg)SNV Uncertain significance 581838 rs762888947 4:81124267-81124267 4:80203113-80203113
28 PRDM8 NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu)SNV Uncertain significance 651342 4:81123205-81123205 4:80202051-80202051
29 PRDM8 NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu)SNV Uncertain significance 652876 4:81123263-81123263 4:80202109-80202109
30 PRDM8 NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly)SNV Uncertain significance 657361 4:81123481-81123481 4:80202327-80202327
31 PRDM8 NM_001099403.2(PRDM8):c.884A>C (p.His295Pro)SNV Uncertain significance 642805 4:81123500-81123500 4:80202346-80202346
32 PRDM8 NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser)SNV Uncertain significance 643837 4:81123691-81123691 4:80202537-80202537
33 PRDM8 NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser)SNV Uncertain significance 659215 4:81124042-81124042 4:80202888-80202888
34 PRDM8 NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg)SNV Uncertain significance 648808 4:81124337-81124337 4:80203183-80203183
35 PRDM8 NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup)duplication Uncertain significance 639513 4:81124377-81124378 4:80203223-80203224
36 PRDM8 NM_001099403.2(PRDM8):c.1805_1810AGCTGC[1] (p.602_603QL[1])short repeat Uncertain significance 663627 4:81124418-81124423 4:80203264-80203269
37 PRDM8 NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val)SNV Uncertain significance 640230 4:81124429-81124429 4:80203275-80203275
38 PRDM8 NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met)indel Uncertain significance 662898 4:81124567-81124568 4:80203413-80203414
39 PRDM8 NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser)SNV Uncertain significance 658722 4:81124582-81124582 4:80203428-80203428
40 PRDM8 NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile)SNV Uncertain significance 475665 rs1483533129 4:81123841-81123841 4:80202687-80202687
41 PRDM8 NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp)SNV Uncertain significance 475670 rs1379672825 4:81124082-81124082 4:80202928-80202928
42 PRDM8 NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His)SNV Uncertain significance 475671 rs750341856 4:81124146-81124146 4:80202992-80202992
43 PRDM8 NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser)SNV Uncertain significance 542335 rs201806195 4:81123337-81123337 4:80202183-80202183
44 PRDM8 NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala)SNV Uncertain significance 542336 rs200777615 4:81122553-81122553 4:80201399-80201399
45 PRDM8 NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser)SNV Uncertain significance 542338 rs756736858 4:81123484-81123484 4:80202330-80202330
46 PRDM8 NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn)SNV Uncertain significance 850420 4:81121251-81121251 4:80200097-80200097
47 PRDM8 NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn)SNV Uncertain significance 838866 4:81121274-81121274 4:80200120-80200120
48 PRDM8 NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys)SNV Uncertain significance 859834 4:81121302-81121302 4:80200148-80200148
49 PRDM8 NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn)SNV Uncertain significance 848417 4:81121380-81121380 4:80200226-80200226
50 PRDM8 NM_001099403.2(PRDM8):c.282G>A (p.Ser94=)SNV Uncertain significance 845760 4:81122506-81122506 4:80201352-80201352

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

73
# Symbol AA change Variation ID SNP ID
1 PRDM8 p.Phe261Leu VAR_075044 rs863225286

Expression for Epilepsy, Progressive Myoclonic, 10

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GO Terms for Epilepsy, Progressive Myoclonic, 10

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