EPM1B
MCID: EPL207
MIFTS: 29

Epilepsy, Progressive Myoclonic, 1b (EPM1B)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 1b

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 1b:

Name: Epilepsy, Progressive Myoclonic, 1b 57 6
Epilepsy, Progressive Myoclonic 1b 57 72 13
Epm1b 57 72
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 70
Epilepsy, Progressive Myoclonic, Type 1b 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of ataxia in early childhood (range 15 months to 3 years)
onset of seizures in later childhood (5 to 10 years)
two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)


HPO:

31
epilepsy, progressive myoclonic, 1b:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM® 57 612437
OMIM Phenotypic Series 57 PS254800
MeSH 44 D020191
MedGen 41 C2676254
UMLS 70 C2676254

Summaries for Epilepsy, Progressive Myoclonic, 1b

UniProtKB/Swiss-Prot : 72 Epilepsy, progressive myoclonic 1B: An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 1b, also known as epilepsy, progressive myoclonic 1b, is related to prickle1-related progressive myoclonus epilepsy with ataxia and progressive myoclonus epilepsy 1b, and has symptoms including fine tremor An important gene associated with Epilepsy, Progressive Myoclonic, 1b is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). Related phenotypes are dysarthria and tremor

More information from OMIM: 612437 PS254800

Related Diseases for Epilepsy, Progressive Myoclonic, 1b

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic, 1b:



Diseases related to Epilepsy, Progressive Myoclonic, 1b

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 1b

Human phenotypes related to Epilepsy, Progressive Myoclonic, 1b:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 tremor 31 HP:0001337
3 dysmetria 31 HP:0001310
4 babinski sign 31 HP:0003487
5 sensory axonal neuropathy 31 HP:0003390
6 atonic seizure 31 HP:0010819
7 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
dysmetria
extensor plantar responses
tonic-clonic seizures
atonic seizures
more
Head And Neck Eyes:
upward gaze palsy

Neurologic Peripheral Nervous System:
axonal sensory neuropathy

Clinical features from OMIM®:

612437 (Updated 20-May-2021)

UMLS symptoms related to Epilepsy, Progressive Myoclonic, 1b:


fine tremor

MGI Mouse Phenotypes related to Epilepsy, Progressive Myoclonic, 1b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 PRICKLE1 TBC1D24

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 1b

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 1b

Genetic Tests for Epilepsy, Progressive Myoclonic, 1b

Anatomical Context for Epilepsy, Progressive Myoclonic, 1b

Publications for Epilepsy, Progressive Myoclonic, 1b

Articles related to Epilepsy, Progressive Myoclonic, 1b:

# Title Authors PMID Year
1
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6 57
21276947 2011
2
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 57 6
18976727 2008
3
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. 57 61
15634728 2005
4
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
5
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 6
26378787 2016
6
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia 6
20301774 2009
7
A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. 57
16376507 2006
8
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. 57
15642921 2005

Variations for Epilepsy, Progressive Myoclonic, 1b

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 1b:

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRICKLE1 NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) SNV Pathogenic 30730 rs281865564 GRCh37: 12:42858422-42858422
GRCh38: 12:42464620-42464620
2 PRICKLE1 NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) SNV Pathogenic 30729 rs281865563 GRCh37: 12:42862585-42862585
GRCh38: 12:42468783-42468783
3 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) SNV Pathogenic 183157 rs765965968 GRCh37: 16:2548334-2548334
GRCh38: 16:2498333-2498333
4 PRICKLE1 NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) SNV Pathogenic/Likely pathogenic 2283 rs113994140 GRCh37: 12:42863325-42863325
GRCh38: 12:42469523-42469523
5 PRICKLE1 Deletion Likely pathogenic 243056 GRCh37: 12:42870202-42899456
GRCh38: 12:42476400-42505654
6 PRICKLE1 NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) SNV Likely pathogenic 982781 GRCh37: 12:42866191-42866191
GRCh38: 12:42472389-42472389
7 PRICKLE1 NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) SNV Uncertain significance 588178 rs1443820017 GRCh37: 12:42860072-42860072
GRCh38: 12:42466270-42466270
8 PRICKLE1 NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) SNV Uncertain significance 308707 rs772276749 GRCh37: 12:42860122-42860122
GRCh38: 12:42466320-42466320
9 PRICKLE1 NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn) SNV Uncertain significance 945559 GRCh37: 12:42858478-42858478
GRCh38: 12:42464676-42464676
10 PRICKLE1 NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) SNV Uncertain significance 537243 rs1555229265 GRCh37: 12:42853932-42853932
GRCh38: 12:42460130-42460130
11 PRICKLE1 NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) SNV Uncertain significance 537244 rs1555229335 GRCh37: 12:42854095-42854095
GRCh38: 12:42460293-42460293
12 PRICKLE1 NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) SNV Uncertain significance 537245 rs781672373 GRCh37: 12:42854018-42854018
GRCh38: 12:42460216-42460216
13 PRICKLE1 NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) SNV Uncertain significance 567700 rs1566084587 GRCh37: 12:42862568-42862568
GRCh38: 12:42468766-42468766
14 PRICKLE1 NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp) SNV Uncertain significance 206677 rs746199700 GRCh37: 12:42853952-42853952
GRCh38: 12:42460150-42460150
15 PRICKLE1 NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys) SNV Uncertain significance 570398 rs771717707 GRCh37: 12:42862507-42862507
GRCh38: 12:42468705-42468705
16 PRICKLE1 NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His) SNV Uncertain significance 570567 rs201705679 GRCh37: 12:42853727-42853727
GRCh38: 12:42459925-42459925
17 PRICKLE1 NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) SNV Uncertain significance 574624 rs1437950772 GRCh37: 12:42858227-42858227
GRCh38: 12:42464425-42464425
18 PRICKLE1 NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) SNV Uncertain significance 575160 rs1239945627 GRCh37: 12:42853783-42853783
GRCh38: 12:42459981-42459981
19 PRICKLE1 NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) SNV Uncertain significance 580710 rs1566082169 GRCh37: 12:42860028-42860028
GRCh38: 12:42466226-42466226
20 PRICKLE1 NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs) Indel Uncertain significance 970481 GRCh37: 12:42854111-42854122
GRCh38: 12:42460309-42460320
21 PRICKLE1 NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) SNV Uncertain significance 197880 rs765119777 GRCh37: 12:42862582-42862582
GRCh38: 12:42468780-42468780
22 PRICKLE1 NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) SNV Uncertain significance 198621 rs570770626 GRCh37: 12:42858401-42858401
GRCh38: 12:42464599-42464599
23 PRICKLE1 NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) SNV Uncertain significance 167530 rs727504104 GRCh37: 12:42853845-42853845
GRCh38: 12:42460043-42460043
24 PRICKLE1 NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) SNV Uncertain significance 206652 rs35731866 GRCh37: 12:42862625-42862625
GRCh38: 12:42468823-42468823
25 PRICKLE1 NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) SNV Uncertain significance 469511 rs200558941 GRCh37: 12:42862616-42862616
GRCh38: 12:42468814-42468814
26 PRICKLE1 NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) Deletion Uncertain significance 469503 rs1555230922 GRCh37: 12:42864155-42864155
GRCh38: 12:42470353-42470353
27 PRICKLE1 NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) SNV Uncertain significance 469501 rs757911190 GRCh37: 12:42858832-42858832
GRCh38: 12:42465030-42465030
28 PRICKLE1 NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) SNV Uncertain significance 469505 rs763169354 GRCh37: 12:42858215-42858215
GRCh38: 12:42464413-42464413
29 PRICKLE1 NM_153026.3(PRICKLE1):c.*594_*595del Deletion Uncertain significance 308691 rs769616581 GRCh37: 12:42853016-42853017
GRCh38: 12:42459214-42459215
30 PRICKLE1 NM_153026.3(PRICKLE1):c.*552del Deletion Uncertain significance 308692 rs68074167 GRCh37: 12:42853059-42853059
GRCh38: 12:42459257-42459257
31 PRICKLE1 NM_153026.3(PRICKLE1):c.*614G>A SNV Uncertain significance 308690 rs886049372 GRCh37: 12:42852997-42852997
GRCh38: 12:42459195-42459195
32 PRICKLE1 NM_153026.3(PRICKLE1):c.-279_-277dup Duplication Uncertain significance 308719 rs886049380 GRCh37: 12:42983494-42983495
GRCh38: 12:42589692-42589693
33 PRICKLE1 NM_153026.3(PRICKLE1):c.*142G>A SNV Uncertain significance 308699 rs886049374 GRCh37: 12:42853469-42853469
GRCh38: 12:42459667-42459667
34 PRICKLE1 NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) SNV Uncertain significance 410637 rs779594296 GRCh37: 12:42858537-42858537
GRCh38: 12:42464735-42464735
35 PRICKLE1 NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) SNV Uncertain significance 410634 rs1060502984 GRCh37: 12:42862592-42862592
GRCh38: 12:42468790-42468790
36 PRICKLE1 NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis) Indel Uncertain significance 410635 rs1060502985 GRCh37: 12:42858422-42858423
GRCh38: 12:42464620-42464621
37 PRICKLE1 NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) SNV Uncertain significance 410636 rs778192552 GRCh37: 12:42858844-42858844
GRCh38: 12:42465042-42465042
38 PRICKLE1 NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) SNV Uncertain significance 469504 rs936545109 GRCh37: 12:42858236-42858236
GRCh38: 12:42464434-42464434
39 PRICKLE1 NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) SNV Uncertain significance 469502 rs151332996 GRCh37: 12:42858589-42858589
GRCh38: 12:42464787-42464787
40 PRICKLE1 NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) SNV Uncertain significance 469509 rs1555229289 GRCh37: 12:42854010-42854010
GRCh38: 12:42460208-42460208
41 PRICKLE1 NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) SNV Uncertain significance 469510 rs1555229171 GRCh37: 12:42853634-42853634
GRCh38: 12:42459832-42459832
42 PRICKLE1 NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) SNV Uncertain significance 71522 rs150766064 GRCh37: 12:42858229-42858229
GRCh38: 12:42464427-42464427
43 PRICKLE1 NM_153026.3(PRICKLE1):c.2272_2274GAT[2] (p.Asp760del) Microsatellite Uncertain significance 572581 rs557205452 GRCh37: 12:42853827-42853829
GRCh38: 12:42460025-42460027
44 PRICKLE1 NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly) SNV Uncertain significance 644799 rs1593100814 GRCh37: 12:42854336-42854336
GRCh38: 12:42460534-42460534
45 PRICKLE1 NM_153026.3(PRICKLE1):c.588+5A>C SNV Uncertain significance 645896 rs1593111486 GRCh37: 12:42862423-42862423
GRCh38: 12:42468621-42468621
46 PRICKLE1 NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met) SNV Uncertain significance 650112 rs751791144 GRCh37: 12:42862571-42862571
GRCh38: 12:42468769-42468769
47 PRICKLE1 NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe) SNV Uncertain significance 657696 rs1261183051 GRCh37: 12:42858581-42858581
GRCh38: 12:42464779-42464779
48 PRICKLE1 NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln) SNV Uncertain significance 665832 rs577174749 GRCh37: 12:42858814-42858814
GRCh38: 12:42465012-42465012
49 PRICKLE1 NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn) SNV Uncertain significance 998400 GRCh37: 12:42858241-42858241
GRCh38: 12:42464439-42464439
50 PRICKLE1 NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp) SNV Uncertain significance 999409 GRCh37: 12:42858663-42858663
GRCh38: 12:42464861-42464861

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 1b:

72
# Symbol AA change Variation ID SNP ID
1 PRICKLE1 p.Arg104Gln VAR_054663 rs113994140
2 PRICKLE1 p.Arg144His VAR_065580 rs281865563
3 PRICKLE1 p.Tyr472His VAR_065581 rs281865564

Expression for Epilepsy, Progressive Myoclonic, 1b

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Pathways for Epilepsy, Progressive Myoclonic, 1b

GO Terms for Epilepsy, Progressive Myoclonic, 1b

Sources for Epilepsy, Progressive Myoclonic, 1b

3 CDC
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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71 UMLS via Orphanet
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