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 58 76 30 6 74
Epm7 58 60 76
Myoclonus Epilepsy and Ataxia Due to Potassium Channel Mutation 60
Progressive Myoclonic Epilepsy Due to Kv3.1 Deficiency 60
Epilepsy, Myoclonic, Progressive, Type 7 41
Progressive Myoclonic Epilepsy Type 7 60
Progressive Myoclonus Epilepsy Type 7 60
Pme Type 7 60
Meak 60

Characteristics:

Orphanet epidemiological data:

60
progressive myoclonic epilepsy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
epilepsy, progressive myoclonic 7:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic 7

OMIM : 58 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 ataxia and polyneuropathy, adult-onset and 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 ataxia and mental deterioration

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Epilepsy, Progressive Myoclonic 7:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 occasional (7.5%) HP:0001251
2 mental deterioration 33 occasional (7.5%) HP:0001268
3 cerebellar atrophy 33 occasional (7.5%) HP:0001272
4 seizures 33 HP:0001250
5 tremor 33 HP:0001337
6 myoclonus 33 HP:0001336

Symptoms via clinical synopsis from OMIM:

58
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 30 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
2
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2015

Variations for Epilepsy, Progressive Myoclonic 7

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

76
# 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 Conflicting interpretations of pathogenicity rs146311746 GRCh38 Chromosome 11, 17772520: 17772520
4 KCNC1 NM_004976.4(KCNC1): c.1426G> A (p.Val476Ile) single nucleotide variant Conflicting interpretations of pathogenicity 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/Likely benign rs73424033 GRCh38 Chromosome 11, 17772330: 17772330
14 KCNC1 NM_001112741.1(KCNC1): c.1236C> T (p.Ser412=) single nucleotide variant Benign/Likely 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/Likely benign rs139804857 GRCh38 Chromosome 11, 17772381: 17772381
22 KCNC1 NM_001112741.1(KCNC1): c.1287C> A (p.Ala429=) single nucleotide variant Benign/Likely benign rs139804857 GRCh37 Chromosome 11, 17793928: 17793928
23 KCNC1 NM_001112741.1(KCNC1): c.1440C> T (p.His480=) single nucleotide variant Likely benign rs1554991429 GRCh38 Chromosome 11, 17772534: 17772534
24 KCNC1 NM_001112741.1(KCNC1): c.433G> C (p.Gly145Arg) single nucleotide variant Uncertain significance rs759773311 GRCh38 Chromosome 11, 17736435: 17736435
25 KCNC1 NM_001112741.1(KCNC1): c.433G> C (p.Gly145Arg) single nucleotide variant Uncertain significance rs759773311 GRCh37 Chromosome 11, 17757982: 17757982
26 KCNC1 NM_001112741.1(KCNC1): c.1017A> C (p.Arg339=) single nucleotide variant Benign rs137989254 GRCh38 Chromosome 11, 17772111: 17772111
27 KCNC1 NM_001112741.1(KCNC1): c.1017A> C (p.Arg339=) single nucleotide variant Benign rs137989254 GRCh37 Chromosome 11, 17793658: 17793658
28 KCNC1 NM_001112741.1(KCNC1): c.1154A> C (p.Lys385Thr) single nucleotide variant Uncertain significance rs1554991360 GRCh38 Chromosome 11, 17772248: 17772248
29 KCNC1 NM_001112741.1(KCNC1): c.1154A> C (p.Lys385Thr) single nucleotide variant Uncertain significance rs1554991360 GRCh37 Chromosome 11, 17793795: 17793795
30 KCNC1 NM_001112741.1(KCNC1): c.1421C> A (p.Ser474Tyr) single nucleotide variant Uncertain significance rs1554991422 GRCh37 Chromosome 11, 17794062: 17794062
31 KCNC1 NM_001112741.1(KCNC1): c.1421C> A (p.Ser474Tyr) single nucleotide variant Uncertain significance rs1554991422 GRCh38 Chromosome 11, 17772515: 17772515
32 KCNC1 NM_001112741.1(KCNC1): c.1440C> T (p.His480=) single nucleotide variant Likely benign rs1554991429 GRCh37 Chromosome 11, 17794081: 17794081
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 rs1284857169 GRCh38 Chromosome 11, 17781715: 17781715
40 KCNC1 NM_001112741.1(KCNC1): c.1739A> G (p.Glu580Gly) single nucleotide variant Uncertain significance rs1284857169 GRCh37 Chromosome 11, 17803262: 17803262
41 KCNC1 NM_001112741.1(KCNC1): c.1262C> T (p.Ala421Val) single nucleotide variant Conflicting interpretations of pathogenicity rs1554991378 GRCh37 Chromosome 11, 17793903: 17793903
42 KCNC1 NM_001112741.1(KCNC1): c.1262C> T (p.Ala421Val) single nucleotide variant Conflicting interpretations of pathogenicity rs1554991378 GRCh38 Chromosome 11, 17772356: 17772356
43 KCNC1 NM_001112741.1(KCNC1): c.933C> T (p.Arg311=) single nucleotide variant Benign/Likely benign rs76882721 GRCh38 Chromosome 11, 17772027: 17772027
44 KCNC1 NM_001112741.1(KCNC1): c.933C> T (p.Arg311=) single nucleotide variant Benign/Likely benign rs76882721 GRCh37 Chromosome 11, 17793574: 17793574
45 KCNC1 NM_001112741.1(KCNC1): c.611T> C (p.Ile204Thr) single nucleotide variant Uncertain significance rs1554991304 GRCh37 Chromosome 11, 17793252: 17793252
46 KCNC1 NM_001112741.1(KCNC1): c.611T> C (p.Ile204Thr) single nucleotide variant Uncertain significance rs1554991304 GRCh38 Chromosome 11, 17771705: 17771705
47 KCNC1 NM_001112741.1(KCNC1): c.750C> T (p.Gly250=) single nucleotide variant Benign rs147271572 GRCh37 Chromosome 11, 17793391: 17793391
48 KCNC1 NM_001112741.1(KCNC1): c.750C> T (p.Gly250=) single nucleotide variant Benign rs147271572 GRCh38 Chromosome 11, 17771844: 17771844
49 KCNC1 NM_001112741.1(KCNC1): c.1438C> A (p.His480Asn) single nucleotide variant Uncertain significance rs1554991425 GRCh37 Chromosome 11, 17794079: 17794079
50 KCNC1 NM_001112741.1(KCNC1): c.1438C> A (p.His480Asn) single nucleotide variant Uncertain significance rs1554991425 GRCh38 Chromosome 11, 17772532: 17772532

Expression for Epilepsy, Progressive Myoclonic 7

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Pathways for Epilepsy, Progressive Myoclonic 7

GO Terms for Epilepsy, Progressive Myoclonic 7

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