EPM7
MCID: EPL134
MIFTS: 24

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 57 75 29 6 73
Epm7 57 59 75
Myoclonus Epilepsy and Ataxia Due to Potassium Channel Mutation 59
Progressive Myoclonic Epilepsy Due to Kv3.1 Deficiency 59
Epilepsy, Myoclonic, Progressive, Type 7 40
Progressive Myoclonic Epilepsy Type 7 59
Progressive Myoclonus Epilepsy Type 7 59
Pme Type 7 59
Meak 59

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
epilepsy, progressive myoclonic 7:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic 7

OMIM : 57 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 epilepsy and myoclonus epilepsy, 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 seizures and ataxia

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
myoclonus
myoclonic epilepsy
normal early development
cerebellar atrophy (in some patients)
more

Clinical features from OMIM:

616187

Human phenotypes related to Epilepsy, Progressive Myoclonic 7:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 occasional (7.5%) HP:0001251
3 tremor 32 HP:0001337
4 myoclonus 32 HP:0001336
5 mental deterioration 32 occasional (7.5%) HP:0001268
6 cerebellar atrophy 32 occasional (7.5%) HP:0001272

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 Year
1
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. ( 27629860 )
2016

Variations for Epilepsy, Progressive Myoclonic 7

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

75
# Symbol AA change Variation ID SNP ID
1 KCNC1 p.Arg320His VAR_072705 rs727502818

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic 7:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNC1 NM_001112741.1(KCNC1): c.959G> A (p.Arg320His) single nucleotide variant Pathogenic rs727502818 GRCh37 Chromosome 11, 17793600: 17793600
2 KCNC1 NM_001112741.1(KCNC1): c.959G> A (p.Arg320His) single nucleotide variant Pathogenic rs727502818 GRCh38 Chromosome 11, 17772053: 17772053
3 KCNC1 NM_004976.4(KCNC1): c.1426G> A (p.Val476Ile) single nucleotide variant Uncertain significance rs146311746 GRCh38 Chromosome 11, 17772520: 17772520
4 KCNC1 NM_004976.4(KCNC1): c.1426G> A (p.Val476Ile) single nucleotide variant Uncertain significance rs146311746 GRCh37 Chromosome 11, 17794067: 17794067
5 KCNC1 NM_001112741.1(KCNC1): c.72G> A (p.Ser24=) single nucleotide variant Benign rs76929858 GRCh37 Chromosome 11, 17757621: 17757621
6 KCNC1 NM_001112741.1(KCNC1): c.72G> A (p.Ser24=) single nucleotide variant Benign rs76929858 GRCh38 Chromosome 11, 17736074: 17736074
7 KCNC1 NM_001112741.1(KCNC1): c.494C> T (p.Pro165Leu) single nucleotide variant Uncertain significance rs749790557 GRCh38 Chromosome 11, 17736496: 17736496
8 KCNC1 NM_001112741.1(KCNC1): c.494C> T (p.Pro165Leu) single nucleotide variant Uncertain significance rs749790557 GRCh37 Chromosome 11, 17758043: 17758043
9 KCNC1 NM_001112741.1(KCNC1): c.683G> T (p.Arg228Leu) single nucleotide variant Likely benign rs200873319 GRCh38 Chromosome 11, 17771777: 17771777
10 KCNC1 NM_001112741.1(KCNC1): c.683G> T (p.Arg228Leu) single nucleotide variant Likely benign rs200873319 GRCh37 Chromosome 11, 17793324: 17793324
11 KCNC1 NM_001112741.1(KCNC1): c.696A> C (p.Gln232His) single nucleotide variant Uncertain significance rs775885483 GRCh38 Chromosome 11, 17771790: 17771790
12 KCNC1 NM_001112741.1(KCNC1): c.696A> C (p.Gln232His) single nucleotide variant Uncertain significance rs775885483 GRCh37 Chromosome 11, 17793337: 17793337
13 KCNC1 NM_001112741.1(KCNC1): c.1236C> T (p.Ser412=) single nucleotide variant Benign rs73424033 GRCh38 Chromosome 11, 17772330: 17772330
14 KCNC1 NM_001112741.1(KCNC1): c.1236C> T (p.Ser412=) single nucleotide variant Benign rs73424033 GRCh37 Chromosome 11, 17793877: 17793877
15 KCNC1 NM_001112741.1(KCNC1): c.492G> A (p.Arg164=) single nucleotide variant Likely benign rs200097310 GRCh37 Chromosome 11, 17758041: 17758041
16 KCNC1 NM_001112741.1(KCNC1): c.492G> A (p.Arg164=) single nucleotide variant Likely benign rs200097310 GRCh38 Chromosome 11, 17736494: 17736494
17 KCNC1 NM_001112741.1(KCNC1): c.636C> T (p.His212=) single nucleotide variant Likely benign rs745968113 GRCh38 Chromosome 11, 17771730: 17771730
18 KCNC1 NM_001112741.1(KCNC1): c.636C> T (p.His212=) single nucleotide variant Likely benign rs745968113 GRCh37 Chromosome 11, 17793277: 17793277
19 KCNC1 NM_001112741.1(KCNC1): c.831G> T (p.Ser277=) single nucleotide variant Likely benign rs765494674 GRCh38 Chromosome 11, 17771925: 17771925
20 KCNC1 NM_001112741.1(KCNC1): c.831G> T (p.Ser277=) single nucleotide variant Likely benign rs765494674 GRCh37 Chromosome 11, 17793472: 17793472
21 KCNC1 NM_001112741.1(KCNC1): c.1287C> A (p.Ala429=) single nucleotide variant Benign rs139804857 GRCh38 Chromosome 11, 17772381: 17772381
22 KCNC1 NM_001112741.1(KCNC1): c.1287C> A (p.Ala429=) single nucleotide variant Benign rs139804857 GRCh37 Chromosome 11, 17793928: 17793928
23 KCNC1 NM_001112741.1(KCNC1): c.433G> C (p.Gly145Arg) single nucleotide variant Uncertain significance rs759773311 GRCh38 Chromosome 11, 17736435: 17736435
24 KCNC1 NM_001112741.1(KCNC1): c.433G> C (p.Gly145Arg) single nucleotide variant Uncertain significance rs759773311 GRCh37 Chromosome 11, 17757982: 17757982
25 KCNC1 NM_001112741.1(KCNC1): c.1017A> C (p.Arg339=) single nucleotide variant Benign rs137989254 GRCh38 Chromosome 11, 17772111: 17772111
26 KCNC1 NM_001112741.1(KCNC1): c.1017A> C (p.Arg339=) single nucleotide variant Benign rs137989254 GRCh37 Chromosome 11, 17793658: 17793658
27 KCNC1 NM_001112741.1(KCNC1): c.1154A> C (p.Lys385Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17793795: 17793795
28 KCNC1 NM_001112741.1(KCNC1): c.1154A> C (p.Lys385Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17772248: 17772248
29 KCNC1 NM_001112741.1(KCNC1): c.1421C> A (p.Ser474Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17794062: 17794062
30 KCNC1 NM_001112741.1(KCNC1): c.1421C> A (p.Ser474Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17772515: 17772515
31 KCNC1 NM_001112741.1(KCNC1): c.1440C> T (p.His480=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 17794081: 17794081
32 KCNC1 NM_001112741.1(KCNC1): c.1440C> T (p.His480=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 17772534: 17772534
33 KCNC1 NM_001112741.1(KCNC1): c.1450C> G (p.Gln484Glu) single nucleotide variant Uncertain significance rs376505218 GRCh37 Chromosome 11, 17794091: 17794091
34 KCNC1 NM_001112741.1(KCNC1): c.1450C> G (p.Gln484Glu) single nucleotide variant Uncertain significance rs376505218 GRCh38 Chromosome 11, 17772544: 17772544
35 KCNC1 NM_001112741.1(KCNC1): c.1662C> T (p.Tyr554=) single nucleotide variant Likely benign rs578025939 GRCh37 Chromosome 11, 17801160: 17801160
36 KCNC1 NM_001112741.1(KCNC1): c.1662C> T (p.Tyr554=) single nucleotide variant Likely benign rs578025939 GRCh38 Chromosome 11, 17779613: 17779613
37 KCNC1 NM_001112741.1(KCNC1): c.744C> T (p.Ile248=) single nucleotide variant Benign rs2229007 GRCh38 Chromosome 11, 17771838: 17771838
38 KCNC1 NM_001112741.1(KCNC1): c.744C> T (p.Ile248=) single nucleotide variant Benign rs2229007 GRCh37 Chromosome 11, 17793385: 17793385
39 KCNC1 NM_001112741.1(KCNC1): c.1739A> G (p.Glu580Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17781715: 17781715
40 KCNC1 NM_001112741.1(KCNC1): c.1739A> G (p.Glu580Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17803262: 17803262
41 KCNC1 NM_001112741.1(KCNC1): c.1262C> T (p.Ala421Val) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 11, 17793903: 17793903
42 KCNC1 NM_001112741.1(KCNC1): c.1262C> T (p.Ala421Val) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 11, 17772356: 17772356
43 KCNC1 NM_001112741.1(KCNC1): c.933C> T (p.Arg311=) single nucleotide variant Benign rs76882721 GRCh37 Chromosome 11, 17793574: 17793574
44 KCNC1 NM_001112741.1(KCNC1): c.933C> T (p.Arg311=) single nucleotide variant Benign rs76882721 GRCh38 Chromosome 11, 17772027: 17772027
45 KCNC1 NM_001112741.1(KCNC1): c.611T> C (p.Ile204Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17771705: 17771705
46 KCNC1 NM_001112741.1(KCNC1): c.611T> C (p.Ile204Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17793252: 17793252
47 KCNC1 NM_001112741.1(KCNC1): c.750C> T (p.Gly250=) single nucleotide variant Benign rs147271572 GRCh38 Chromosome 11, 17771844: 17771844
48 KCNC1 NM_001112741.1(KCNC1): c.750C> T (p.Gly250=) single nucleotide variant Benign rs147271572 GRCh37 Chromosome 11, 17793391: 17793391
49 KCNC1 NM_001112741.1(KCNC1): c.1438C> A (p.His480Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17772532: 17772532
50 KCNC1 NM_001112741.1(KCNC1): c.1438C> A (p.His480Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17794079: 17794079

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....