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 57 74 29 6 72
Epm7 57 59 74
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:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D020191
ICD10 via Orphanet 34 G40.3
Orphanet 59 ORPHA435438
UMLS 72 C4015420

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 ataxia and polyneuropathy, adult-onset and progressive 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 ataxia and mental deterioration

UniProtKB/Swiss-Prot : 74 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:

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

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

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. 8 71
25401298 2015
2
Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. 38
29428275 2018
3
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. 38
28380698 2017
4
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. 38
27629860 2016

Variations for Epilepsy, Progressive Myoclonic 7

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic 7:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNC1 NM_001112741.1(KCNC1): c.959G> A (p.Arg320His) single nucleotide variant Pathogenic rs727502818 11:17793600-17793600 11:17772053-17772053
2 KCNC1 NM_001112741.1(KCNC1): c.691A> G (p.Thr231Ala) single nucleotide variant Likely pathogenic 11:17793332-17793332 11:17771785-17771785
3 KCNC1 NM_001112741.1(KCNC1): c.108del (p.Trp36fs) deletion Likely pathogenic 11:17757657-17757657 11:17736110-17736110
4 KCNC1 NM_001112741.1(KCNC1): c.677A> T (p.Asn226Ile) single nucleotide variant Conflicting interpretations of pathogenicity 11:17793318-17793318 11:17771771-17771771
5 KCNC1 NM_001112741.1(KCNC1): c.1426G> A (p.Val476Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146311746 11:17794067-17794067 11:17772520-17772520
6 KCNC1 NM_001112741.1(KCNC1): c.1659G> T (p.Glu553Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs372580647 11:17801157-17801157 11:17779610-17779610
7 KCNC1 NM_001112741.1(KCNC1): c.1262C> T (p.Ala421Val) single nucleotide variant Conflicting interpretations of pathogenicity rs1554991378 11:17793903-17793903 11:17772356-17772356
8 KCNC1 NM_001112741.1(KCNC1): c.611T> C (p.Ile204Thr) single nucleotide variant Uncertain significance rs1554991304 11:17793252-17793252 11:17771705-17771705
9 KCNC1 NM_001112741.1(KCNC1): c.1627T> C (p.Tyr543His) single nucleotide variant Uncertain significance rs775725087 11:17801125-17801125 11:17779578-17779578
10 KCNC1 NM_001112741.1(KCNC1): c.1630G> A (p.Gly544Arg) single nucleotide variant Uncertain significance rs758088373 11:17801128-17801128 11:17779581-17779581
11 KCNC1 NM_001112741.1(KCNC1): c.654C> A (p.Ile218=) single nucleotide variant Uncertain significance rs747207268 11:17793295-17793295 11:17771748-17771748
12 KCNC1 NM_001112741.1(KCNC1): c.692C> T (p.Thr231Met) single nucleotide variant Uncertain significance rs1554991314 11:17793333-17793333 11:17771786-17771786
13 KCNC1 NM_001112741.1(KCNC1): c.1438C> A (p.His480Asn) single nucleotide variant Uncertain significance rs1554991425 11:17794079-17794079 11:17772532-17772532
14 KCNC1 NM_001112741.1(KCNC1): c.701G> A (p.Arg234His) single nucleotide variant Uncertain significance rs763794003 11:17793342-17793342 11:17771795-17771795
15 KCNC1 NM_001112741.1(KCNC1): c.494C> T (p.Pro165Leu) single nucleotide variant Uncertain significance rs749790557 11:17758043-17758043 11:17736496-17736496
16 KCNC1 NM_001112741.1(KCNC1): c.696A> C (p.Gln232His) single nucleotide variant Uncertain significance rs775885483 11:17793337-17793337 11:17771790-17771790
17 KCNC1 NM_001112741.1(KCNC1): c.433G> C (p.Gly145Arg) single nucleotide variant Uncertain significance rs759773311 11:17757982-17757982 11:17736435-17736435
18 KCNC1 NM_001112741.1(KCNC1): c.1154A> C (p.Lys385Thr) single nucleotide variant Uncertain significance rs1554991360 11:17793795-17793795 11:17772248-17772248
19 KCNC1 NM_001112741.1(KCNC1): c.1421C> A (p.Ser474Tyr) single nucleotide variant Uncertain significance rs1554991422 11:17794062-17794062 11:17772515-17772515
20 KCNC1 NM_001112741.1(KCNC1): c.1450C> G (p.Gln484Glu) single nucleotide variant Uncertain significance rs376505218 11:17794091-17794091 11:17772544-17772544
21 KCNC1 NM_001112741.1(KCNC1): c.1739A> G (p.Glu580Gly) single nucleotide variant Uncertain significance rs1284857169 11:17803262-17803262 11:17781715-17781715
22 KCNC1 NM_001112741.1(KCNC1): c.121G> A (p.Asp41Asn) single nucleotide variant Uncertain significance 11:17757670-17757670 11:17736123-17736123
23 KCNC1 NM_001112741.1(KCNC1): c.788G> A (p.Arg263His) single nucleotide variant Uncertain significance 11:17793429-17793429 11:17771882-17771882
24 KCNC1 NM_001112741.1(KCNC1): c.1261G> A (p.Ala421Thr) single nucleotide variant Uncertain significance 11:17793902-17793902 11:17772355-17772355
25 KCNC1 NM_001112741.1(KCNC1): c.1269G> A (p.Ala423=) single nucleotide variant Uncertain significance 11:17793910-17793910 11:17772363-17772363
26 KCNC1 NM_001112741.1(KCNC1): c.1574C> T (p.Ala525Val) single nucleotide variant Uncertain significance 11:17801072-17801072 11:17779525-17779525
27 KCNC1 NM_001112741.1(KCNC1): c.223A> G (p.Lys75Glu) single nucleotide variant Uncertain significance 11:17757772-17757772 11:17736225-17736225
28 KCNC1 NM_001112741.1(KCNC1): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance 11:17758103-17758103 11:17736556-17736556
29 KCNC1 NM_001112741.1(KCNC1): c.1065C> T (p.Gly355=) single nucleotide variant Uncertain significance 11:17793706-17793706 11:17772159-17772159
30 KCNC1 NM_001112741.1(KCNC1): c.1654G> A (p.Gly552Arg) single nucleotide variant Uncertain significance 11:17801152-17801152 11:17779605-17779605
31 KCNC1 NM_001112741.1(KCNC1): c.394G> A (p.Asp132Asn) single nucleotide variant Uncertain significance 11:17757943-17757943 11:17736396-17736396
32 KCNC1 NM_001112741.1(KCNC1): c.435C> T (p.Gly145=) single nucleotide variant Uncertain significance 11:17757984-17757984 11:17736437-17736437
33 KCNC1 NM_001112741.1(KCNC1): c.499G> T (p.Gly167Cys) single nucleotide variant Uncertain significance 11:17758048-17758048 11:17736501-17736501
34 KCNC1 NM_001112741.1(KCNC1): c.1619G> A (p.Arg540His) single nucleotide variant Uncertain significance 11:17801117-17801117 11:17779570-17779570
35 KCNC1 NM_001112741.1(KCNC1): c.1673C> G (p.Pro558Arg) single nucleotide variant Uncertain significance 11:17801171-17801171 11:17779624-17779624
36 KCNC1 NM_001112741.1(KCNC1): c.709C> T (p.Arg237Trp) single nucleotide variant Uncertain significance 11:17793350-17793350 11:17771803-17771803
37 KCNC1 NM_001112741.1(KCNC1): c.1625G> A (p.Arg542Lys) single nucleotide variant Uncertain significance 11:17801123-17801123 11:17779576-17779576
38 KCNC1 NM_001112741.1(KCNC1): c.131G> A (p.Ser44Asn) single nucleotide variant Uncertain significance 11:17757680-17757680 11:17736133-17736133
39 KCNC1 NM_001112741.1(KCNC1): c.421G> T (p.Asp141Tyr) single nucleotide variant Uncertain significance 11:17757970-17757970 11:17736423-17736423
40 KCNC1 NM_001112741.1(KCNC1): c.523C> T (p.Arg175Cys) single nucleotide variant Uncertain significance 11:17758072-17758072 11:17736525-17736525
41 KCNC1 NM_001112741.1(KCNC1): c.1399G> C (p.Gly467Arg) single nucleotide variant Uncertain significance 11:17794040-17794040 11:17772493-17772493
42 KCNC1 NM_001112741.1(KCNC1): c.1505A> G (p.Asp502Gly) single nucleotide variant Uncertain significance 11:17801003-17801003 11:17779456-17779456
43 KCNC1 NM_001112741.1(KCNC1): c.1681G> A (p.Gly561Arg) single nucleotide variant Uncertain significance 11:17801179-17801179 11:17779632-17779632
44 KCNC1 NM_001112741.1(KCNC1): c.1662C> T (p.Tyr554=) single nucleotide variant Likely benign rs578025939 11:17801160-17801160 11:17779613-17779613
45 KCNC1 NM_001112741.1(KCNC1): c.1440C> T (p.His480=) single nucleotide variant Likely benign rs1554991429 11:17794081-17794081 11:17772534-17772534
46 KCNC1 NM_001112741.1(KCNC1): c.683G> T (p.Arg228Leu) single nucleotide variant Likely benign rs200873319 11:17793324-17793324 11:17771777-17771777
47 KCNC1 NM_001112741.1(KCNC1): c.492G> A (p.Arg164=) single nucleotide variant Likely benign rs200097310 11:17758041-17758041 11:17736494-17736494
48 KCNC1 NM_001112741.1(KCNC1): c.636C> T (p.His212=) single nucleotide variant Likely benign rs745968113 11:17793277-17793277 11:17771730-17771730
49 KCNC1 NM_001112741.1(KCNC1): c.831G> T (p.Ser277=) single nucleotide variant Likely benign rs765494674 11:17793472-17793472 11:17771925-17771925
50 KCNC1 NM_001112741.1(KCNC1): c.1584C> G (p.Pro528=) single nucleotide variant Likely benign rs1044982783 11:17801082-17801082 11:17779535-17779535

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

74
# Symbol AA change Variation ID SNP ID
1 KCNC1 p.Arg320His VAR_072705 rs727502818

Expression for Epilepsy, Progressive Myoclonic 7

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GO Terms for Epilepsy, Progressive Myoclonic 7

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