EPM7
MCID: EPL134
MIFTS: 27

Epilepsy, Progressive Myoclonic 7 (EPM7)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic 7

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic 7:

Name: Epilepsy, Progressive Myoclonic 7 56 73 29 6 71
Epm7 56 58 73
Myoclonus Epilepsy and Ataxia Due to Potassium Channel Mutation 58
Progressive Myoclonic Epilepsy Due to Kv3.1 Deficiency 58
Epilepsy, Myoclonic, Progressive, Type 7 39
Progressive Myoclonus Epilepsy Type 7 58
Progressive Myoclonic Epilepsy Type 7 58
Pme Type 7 58
Meak 58

Characteristics:

Orphanet epidemiological data:

58
progressive myoclonic epilepsy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
most mutations occur de novo
onset between 6 and 14 years
most patients become wheelchair-bound in adolescence


HPO:

31
epilepsy, progressive myoclonic 7:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 616187
OMIM Phenotypic Series 56 PS254800
MeSH 43 D020191
ICD10 via Orphanet 33 G40.3
Orphanet 58 ORPHA435438
UMLS 71 C4015420

Summaries for Epilepsy, Progressive Myoclonic 7

OMIM : 56 Progressive myoclonic epilepsy-7 is a neurologic disorder characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life. Most patients become wheelchair-bound; some patients may have cognitive decline (summary by Muona et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (616187)

MalaCards based summary : Epilepsy, Progressive Myoclonic 7, also known as epm7, is related to progressive myoclonus epilepsy 7 and ataxia and polyneuropathy, adult-onset, and has symptoms including tremor and myoclonus. An important gene associated with Epilepsy, Progressive Myoclonic 7 is KCNC1 (Potassium Voltage-Gated Channel Subfamily C Member 1). Related phenotypes are ataxia and mental deterioration

UniProtKB/Swiss-Prot : 73 Epilepsy, progressive myoclonic 7: A neurologic disorder characterized by progressive myoclonic epilepsy, manifesting in the first or second decades of life. Cognitive function may decline in some patients. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.

Related Diseases for Epilepsy, Progressive Myoclonic 7

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic 7:



Diseases related to Epilepsy, Progressive Myoclonic 7

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic 7

Human phenotypes related to Epilepsy, Progressive Myoclonic 7:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 mental deterioration 31 occasional (7.5%) HP:0001268
3 cerebellar atrophy 31 occasional (7.5%) HP:0001272
4 seizures 31 HP:0001250
5 tremor 31 HP:0001337
6 myoclonus 31 HP:0001336

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
tremor
myoclonus
myoclonic epilepsy
normal early development
cerebellar atrophy (in some patients)
more

Clinical features from OMIM:

616187

UMLS symptoms related to Epilepsy, Progressive Myoclonic 7:


tremor, myoclonus

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic 7

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic 7

Genetic Tests for Epilepsy, Progressive Myoclonic 7

Genetic tests related to Epilepsy, Progressive Myoclonic 7:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic 7 29 KCNC1

Anatomical Context for Epilepsy, Progressive Myoclonic 7

Publications for Epilepsy, Progressive Myoclonic 7

Articles related to Epilepsy, Progressive Myoclonic 7:

# Title Authors PMID Year
1
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 56 6
25401298 2015
2
An Italian multicentre study of perampanel in progressive myoclonus epilepsies. 61
31446282 2019

Variations for Epilepsy, Progressive Myoclonic 7

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic 7:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNC1 NM_001112741.1(KCNC1):c.959G>A (p.Arg320His)SNV Pathogenic 162519 rs727502818 11:17793600-17793600 11:17772053-17772053
2 KCNC1 NM_001112741.2(KCNC1):c.108del (p.Trp36fs)deletion Likely pathogenic 658535 11:17757656-17757656 11:17736109-17736109
3 KCNC1 NM_001112741.1(KCNC1):c.691A>G (p.Thr231Ala)SNV Likely pathogenic 568146 rs1565162623 11:17793332-17793332 11:17771785-17771785
4 KCNC1 NM_004976.4(KCNC1):c.1370del (p.Lys457fs)deletion Likely pathogenic 692088 11:17794004-17794004 11:17772457-17772457
5 KCNC1 NM_001112741.1(KCNC1):c.1659G>T (p.Glu553Asp)SNV Conflicting interpretations of pathogenicity 542104 rs372580647 11:17801157-17801157 11:17779610-17779610
6 KCNC1 NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile)SNV Conflicting interpretations of pathogenicity 218659 rs146311746 11:17794067-17794067 11:17772520-17772520
7 KCNC1 NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val)SNV Conflicting interpretations of pathogenicity 488536 rs1554991378 11:17793903-17793903 11:17772356-17772356
8 KCNC1 NM_001112741.1(KCNC1):c.611T>C (p.Ile204Thr)SNV Uncertain significance 542107 rs1554991304 11:17793252-17793252 11:17771705-17771705
9 KCNC1 NM_001112741.1(KCNC1):c.1438C>A (p.His480Asn)SNV Uncertain significance 542106 rs1554991425 11:17794079-17794079 11:17772532-17772532
10 KCNC1 NM_001112741.1(KCNC1):c.1627T>C (p.Tyr543His)SNV Uncertain significance 542105 rs775725087 11:17801125-17801125 11:17779578-17779578
11 KCNC1 NM_001112741.1(KCNC1):c.1630G>A (p.Gly544Arg)SNV Uncertain significance 542110 rs758088373 11:17801128-17801128 11:17779581-17779581
12 KCNC1 NM_001112741.1(KCNC1):c.494C>T (p.Pro165Leu)SNV Uncertain significance 475356 rs749790557 11:17758043-17758043 11:17736496-17736496
13 KCNC1 NM_001112741.1(KCNC1):c.696A>C (p.Gln232His)SNV Uncertain significance 475359 rs775885483 11:17793337-17793337 11:17771790-17771790
14 KCNC1 NM_001112741.1(KCNC1):c.433G>C (p.Gly145Arg)SNV Uncertain significance 475354 rs759773311 11:17757982-17757982 11:17736435-17736435
15 KCNC1 NM_001112741.1(KCNC1):c.1154A>C (p.Lys385Thr)SNV Uncertain significance 475346 rs1554991360 11:17793795-17793795 11:17772248-17772248
16 KCNC1 NM_001112741.1(KCNC1):c.1421C>A (p.Ser474Tyr)SNV Uncertain significance 475349 rs1554991422 11:17794062-17794062 11:17772515-17772515
17 KCNC1 NM_001112741.1(KCNC1):c.1450C>G (p.Gln484Glu)SNV Uncertain significance 475351 rs376505218 11:17794091-17794091 11:17772544-17772544
18 KCNC1 NM_001112741.1(KCNC1):c.121G>A (p.Asp41Asn)SNV Uncertain significance 567485 rs1192156090 11:17757670-17757670 11:17736123-17736123
19 KCNC1 NM_001112741.1(KCNC1):c.788G>A (p.Arg263His)SNV Uncertain significance 570230 rs775163829 11:17793429-17793429 11:17771882-17771882
20 KCNC1 NM_001112741.1(KCNC1):c.1261G>A (p.Ala421Thr)SNV Uncertain significance 566539 rs1565162836 11:17793902-17793902 11:17772355-17772355
21 KCNC1 NM_001112741.1(KCNC1):c.1269G>A (p.Ala423=)SNV Uncertain significance 567751 rs150682385 11:17793910-17793910 11:17772363-17772363
22 KCNC1 NM_001112741.1(KCNC1):c.1574C>T (p.Ala525Val)SNV Uncertain significance 574643 rs1169785679 11:17801072-17801072 11:17779525-17779525
23 KCNC1 NM_001112741.1(KCNC1):c.223A>G (p.Lys75Glu)SNV Uncertain significance 582490 rs1565152713 11:17757772-17757772 11:17736225-17736225
24 KCNC1 NM_001112741.1(KCNC1):c.554C>T (p.Ser185Leu)SNV Uncertain significance 575538 rs1565152898 11:17758103-17758103 11:17736556-17736556
25 KCNC1 NM_001112741.1(KCNC1):c.1065C>T (p.Gly355=)SNV Uncertain significance 575029 rs533816804 11:17793706-17793706 11:17772159-17772159
26 KCNC1 NM_001112741.1(KCNC1):c.1654G>A (p.Gly552Arg)SNV Uncertain significance 573536 rs755386451 11:17801152-17801152 11:17779605-17779605
27 KCNC1 NM_001112741.1(KCNC1):c.394G>A (p.Asp132Asn)SNV Uncertain significance 570244 rs770445113 11:17757943-17757943 11:17736396-17736396
28 KCNC1 NM_001112741.1(KCNC1):c.435C>T (p.Gly145=)SNV Uncertain significance 571818 rs767598381 11:17757984-17757984 11:17736437-17736437
29 KCNC1 NM_001112741.1(KCNC1):c.499G>T (p.Gly167Cys)SNV Uncertain significance 567985 rs1274575581 11:17758048-17758048 11:17736501-17736501
30 KCNC1 NM_001112741.1(KCNC1):c.1619G>A (p.Arg540His)SNV Uncertain significance 580602 rs375362627 11:17801117-17801117 11:17779570-17779570
31 KCNC1 NM_001112741.1(KCNC1):c.1673C>G (p.Pro558Arg)SNV Uncertain significance 567831 rs749270474 11:17801171-17801171 11:17779624-17779624
32 KCNC1 NM_001112741.1(KCNC1):c.131G>A (p.Ser44Asn)SNV Uncertain significance 653011 11:17757680-17757680 11:17736133-17736133
33 KCNC1 NM_001112741.1(KCNC1):c.421G>T (p.Asp141Tyr)SNV Uncertain significance 661955 11:17757970-17757970 11:17736423-17736423
34 KCNC1 NM_001112741.1(KCNC1):c.523C>T (p.Arg175Cys)SNV Uncertain significance 650855 11:17758072-17758072 11:17736525-17736525
35 KCNC1 NM_001112741.1(KCNC1):c.1399G>C (p.Gly467Arg)SNV Uncertain significance 645528 11:17794040-17794040 11:17772493-17772493
36 KCNC1 NM_001112741.1(KCNC1):c.1505A>G (p.Asp502Gly)SNV Uncertain significance 650375 11:17801003-17801003 11:17779456-17779456
37 KCNC1 NM_001112741.1(KCNC1):c.1681G>A (p.Gly561Arg)SNV Uncertain significance 663798 11:17801179-17801179 11:17779632-17779632
38 KCNC1 NM_001112741.1(KCNC1):c.654C>A (p.Ile218=)SNV Uncertain significance 542108 rs747207268 11:17793295-17793295 11:17771748-17771748
39 KCNC1 NM_001112741.1(KCNC1):c.692C>T (p.Thr231Met)SNV Uncertain significance 542103 rs1554991314 11:17793333-17793333 11:17771786-17771786
40 KCNC1 NM_001112741.1(KCNC1):c.701G>A (p.Arg234His)SNV Uncertain significance 542109 rs763794003 11:17793342-17793342 11:17771795-17771795
41 KCNC1 NM_001112741.1(KCNC1):c.1739A>G (p.Glu580Gly)SNV Uncertain significance 475353 rs1284857169 11:17803262-17803262 11:17781715-17781715
42 KCNC1 NM_001112741.1(KCNC1):c.709C>T (p.Arg237Trp)SNV Uncertain significance 578002 rs150993414 11:17793350-17793350 11:17771803-17771803
43 KCNC1 NM_001112741.1(KCNC1):c.1625G>A (p.Arg542Lys)SNV Uncertain significance 567570 rs1021551048 11:17801123-17801123 11:17779576-17779576
44 KCNC1 NM_001112741.1(KCNC1):c.1584C>G (p.Pro528=)SNV Likely benign 542113 rs1044982783 11:17801082-17801082 11:17779535-17779535
45 KCNC1 NM_001112741.1(KCNC1):c.51G>A (p.Thr17=)SNV Likely benign 542115 rs1423569470 11:17757600-17757600 11:17736053-17736053
46 KCNC1 NM_001112741.1(KCNC1):c.1662C>T (p.Tyr554=)SNV Likely benign 475352 rs578025939 11:17801160-17801160 11:17779613-17779613
47 KCNC1 NM_001112741.1(KCNC1):c.96G>A (p.Thr32=)SNV Likely benign 542118 rs140637569 11:17757645-17757645 11:17736098-17736098
48 KCNC1 NM_001112741.1(KCNC1):c.1505-8G>ASNV Likely benign 542117 rs1353872876 11:17800995-17800995 11:17779448-17779448
49 KCNC1 NM_001112741.1(KCNC1):c.72G>A (p.Ser24=)SNV Benign 447617 rs76929858 11:17757621-17757621 11:17736074-17736074
50 KCNC1 NM_001112741.1(KCNC1):c.744C>T (p.Ile248=)SNV Benign 475360 rs2229007 11:17793385-17793385 11:17771838-17771838

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic 7:

73
# Symbol AA change Variation ID SNP ID
1 KCNC1 p.Arg320His VAR_072705 rs727502818

Expression for Epilepsy, Progressive Myoclonic 7

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic 7.

Pathways for Epilepsy, Progressive Myoclonic 7

GO Terms for Epilepsy, Progressive Myoclonic 7

Sources for Epilepsy, Progressive Myoclonic 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....