EPM10
MCID: EPL188
MIFTS: 23

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 75
Epm10 57 75
Epilepsy, Progressive Myoclonic 10 75

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:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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, is also known as early-onset lafora body disease. An important gene associated with Epilepsy, Progressive Myoclonic, 10 is PRDM8 (PR/SET Domain 8). Affiliated tissues include skeletal muscle, and related phenotypes are seizures and ataxia

UniProtKB/Swiss-Prot : 75 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.

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 10

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

Human phenotypes related to Epilepsy, Progressive Myoclonic, 10:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
6 paranoia 59 32 very rare (1%) Very rare (<4-1%) HP:0011999
7 mental deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001268
8 spastic tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001285
9 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
10 mutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002300
11 lafora bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0100318
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

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

Publications for Epilepsy, Progressive Myoclonic, 10

Articles related to Epilepsy, Progressive Myoclonic, 10:

# Title Authors Year
1
Early-onset Lafora body disease. ( 22961547 )
2012

Variations for Epilepsy, Progressive Myoclonic, 10

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

75
# Symbol AA change Variation ID SNP ID
1 PRDM8 p.Phe261Leu VAR_075044 rs863225286

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

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRDM8 NM_020226.3(PRDM8): c.781T> C (p.Phe261Leu) single nucleotide variant Pathogenic rs863225286 GRCh38 Chromosome 4, 80202243: 80202243
2 PRDM8 NM_020226.3(PRDM8): c.781T> C (p.Phe261Leu) single nucleotide variant Pathogenic rs863225286 GRCh37 Chromosome 4, 81123397: 81123397
3 PRDM8 NM_020226.3(PRDM8): c.622G> A (p.Gly208Ser) single nucleotide variant Uncertain significance rs761182081 GRCh38 Chromosome 4, 80202084: 80202084
4 PRDM8 NM_020226.3(PRDM8): c.622G> A (p.Gly208Ser) single nucleotide variant Uncertain significance rs761182081 GRCh37 Chromosome 4, 81123238: 81123238
5 PRDM8 NM_020226.3(PRDM8): c.687A> C (p.Lys229Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 81123303: 81123303
6 PRDM8 NM_020226.3(PRDM8): c.687A> C (p.Lys229Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 80202149: 80202149
7 PRDM8 NM_020226.3(PRDM8): c.1137C> A (p.Gly379=) single nucleotide variant Benign rs144810863 GRCh37 Chromosome 4, 81123753: 81123753
8 PRDM8 NM_020226.3(PRDM8): c.1137C> A (p.Gly379=) single nucleotide variant Benign rs144810863 GRCh38 Chromosome 4, 80202599: 80202599
9 PRDM8 NM_020226.3(PRDM8): c.1390C> T (p.Pro464Ser) single nucleotide variant Uncertain significance rs201251555 GRCh37 Chromosome 4, 81124006: 81124006
10 PRDM8 NM_020226.3(PRDM8): c.1390C> T (p.Pro464Ser) single nucleotide variant Uncertain significance rs201251555 GRCh38 Chromosome 4, 80202852: 80202852
11 PRDM8 NM_020226.3(PRDM8): c.1726C> T (p.Leu576=) single nucleotide variant Benign rs28405693 GRCh38 Chromosome 4, 80203188: 80203188
12 PRDM8 NM_020226.3(PRDM8): c.1726C> T (p.Leu576=) single nucleotide variant Benign rs28405693 GRCh37 Chromosome 4, 81124342: 81124342
13 PRDM8 NM_020226.3(PRDM8): c.1838C> G (p.Pro613Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 81124454: 81124454
14 PRDM8 NM_020226.3(PRDM8): c.1838C> G (p.Pro613Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 80203300: 80203300
15 PRDM8 NM_020226.3(PRDM8): c.1857G> T (p.Leu619=) single nucleotide variant Benign rs140737026 GRCh37 Chromosome 4, 81124473: 81124473
16 PRDM8 NM_020226.3(PRDM8): c.1857G> T (p.Leu619=) single nucleotide variant Benign rs140737026 GRCh38 Chromosome 4, 80203319: 80203319
17 PRDM8 NM_020226.3(PRDM8): c.1050C> T (p.Cys350=) single nucleotide variant Benign rs374280707 GRCh37 Chromosome 4, 81123666: 81123666
18 PRDM8 NM_020226.3(PRDM8): c.412C> T (p.Leu138Phe) single nucleotide variant Uncertain significance rs775975261 GRCh37 Chromosome 4, 81122636: 81122636
19 PRDM8 NM_020226.3(PRDM8): c.412C> T (p.Leu138Phe) single nucleotide variant Uncertain significance rs775975261 GRCh38 Chromosome 4, 80201482: 80201482
20 PRDM8 NM_020226.3(PRDM8): c.722C> A (p.Pro241Gln) single nucleotide variant Benign rs200010979 GRCh37 Chromosome 4, 81123338: 81123338
21 PRDM8 NM_020226.3(PRDM8): c.722C> A (p.Pro241Gln) single nucleotide variant Benign rs200010979 GRCh38 Chromosome 4, 80202184: 80202184
22 PRDM8 NM_020226.3(PRDM8): c.850_861delAGCAGCGGTAGC (p.Ser284_Ser287del) deletion Uncertain significance GRCh37 Chromosome 4, 81123466: 81123477
23 PRDM8 NM_020226.3(PRDM8): c.850_861delAGCAGCGGTAGC (p.Ser284_Ser287del) deletion Uncertain significance GRCh38 Chromosome 4, 80202312: 80202323
24 PRDM8 NM_020226.3(PRDM8): c.1050C> T (p.Cys350=) single nucleotide variant Benign rs374280707 GRCh38 Chromosome 4, 80202512: 80202512
25 PRDM8 NM_020226.3(PRDM8): c.1314C> T (p.Ala438=) single nucleotide variant Likely benign rs188061449 GRCh38 Chromosome 4, 80202776: 80202776
26 PRDM8 NM_020226.3(PRDM8): c.1314C> T (p.Ala438=) single nucleotide variant Likely benign rs188061449 GRCh37 Chromosome 4, 81123930: 81123930
27 PRDM8 NM_020226.3(PRDM8): c.1367G> A (p.Arg456Lys) single nucleotide variant Uncertain significance rs940171879 GRCh38 Chromosome 4, 80202829: 80202829
28 PRDM8 NM_020226.3(PRDM8): c.1367G> A (p.Arg456Lys) single nucleotide variant Uncertain significance rs940171879 GRCh37 Chromosome 4, 81123983: 81123983
29 PRDM8 NM_020226.3(PRDM8): c.1683C> T (p.Ser561=) single nucleotide variant Benign rs150632206 GRCh37 Chromosome 4, 81124299: 81124299
30 PRDM8 NM_020226.3(PRDM8): c.1683C> T (p.Ser561=) single nucleotide variant Benign rs150632206 GRCh38 Chromosome 4, 80203145: 80203145
31 PRDM8 NM_020226.3(PRDM8): c.1778_1795del18 (p.Ala593_Ala598del) deletion Benign GRCh38 Chromosome 4, 80203240: 80203257
32 PRDM8 NM_020226.3(PRDM8): c.1778_1795del18 (p.Ala593_Ala598del) deletion Benign GRCh37 Chromosome 4, 81124394: 81124411
33 PRDM8 NM_020226.3(PRDM8): c.1955A> G (p.Tyr652Cys) single nucleotide variant Uncertain significance rs758969495 GRCh38 Chromosome 4, 80203417: 80203417
34 PRDM8 NM_020226.3(PRDM8): c.1955A> G (p.Tyr652Cys) single nucleotide variant Uncertain significance rs758969495 GRCh37 Chromosome 4, 81124571: 81124571
35 PRDM8 NM_020226.3(PRDM8): c.1968C> G (p.Pro656=) single nucleotide variant Likely benign rs547453696 GRCh37 Chromosome 4, 81124584: 81124584
36 PRDM8 NM_020226.3(PRDM8): c.1968C> G (p.Pro656=) single nucleotide variant Likely benign rs547453696 GRCh38 Chromosome 4, 80203430: 80203430
37 PRDM8 NM_020226.3(PRDM8): c.26G> A (p.Gly9Asp) single nucleotide variant Uncertain significance rs756625230 GRCh38 Chromosome 4, 80200106: 80200106
38 PRDM8 NM_020226.3(PRDM8): c.26G> A (p.Gly9Asp) single nucleotide variant Uncertain significance rs756625230 GRCh37 Chromosome 4, 81121260: 81121260
39 PRDM8 NM_020226.3(PRDM8): c.649_651dup (p.Gln217_Glu218insGln) duplication Uncertain significance GRCh37 Chromosome 4, 81123265: 81123267
40 PRDM8 NM_020226.3(PRDM8): c.649_651dup (p.Gln217_Glu218insGln) duplication Uncertain significance GRCh38 Chromosome 4, 80202111: 80202113
41 PRDM8 NM_020226.3(PRDM8): c.987G> T (p.Leu329=) single nucleotide variant Benign rs6831357 GRCh38 Chromosome 4, 80202449: 80202449
42 PRDM8 NM_020226.3(PRDM8): c.987G> T (p.Leu329=) single nucleotide variant Benign rs6831357 GRCh37 Chromosome 4, 81123603: 81123603
43 PRDM8 NM_020226.3(PRDM8): c.1225G> A (p.Val409Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 81123841: 81123841
44 PRDM8 NM_020226.3(PRDM8): c.1225G> A (p.Val409Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 80202687: 80202687
45 PRDM8 NM_020226.3(PRDM8): c.1447G> T (p.Ala483Ser) single nucleotide variant Benign rs544862921 GRCh37 Chromosome 4, 81124063: 81124063
46 PRDM8 NM_020226.3(PRDM8): c.1447G> T (p.Ala483Ser) single nucleotide variant Benign rs544862921 GRCh38 Chromosome 4, 80202909: 80202909
47 PRDM8 NM_020226.3(PRDM8): c.1466G> A (p.Gly489Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 80202928: 80202928
48 PRDM8 NM_020226.3(PRDM8): c.1466G> A (p.Gly489Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 81124082: 81124082
49 PRDM8 NM_020226.3(PRDM8): c.1530G> T (p.Gln510His) single nucleotide variant Uncertain significance rs750341856 GRCh37 Chromosome 4, 81124146: 81124146
50 PRDM8 NM_020226.3(PRDM8): c.1530G> T (p.Gln510His) single nucleotide variant Uncertain significance rs750341856 GRCh38 Chromosome 4, 80202992: 80202992

Expression for Epilepsy, Progressive Myoclonic, 10

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GO Terms for Epilepsy, Progressive Myoclonic, 10

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