EPM 3
MCID: EPL009
MIFTS: 19

Epilepsy Progressive Myoclonic Type 3 (EPM 3)

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

Aliases & Classifications for Epilepsy Progressive Myoclonic Type 3

MalaCards integrated aliases for Epilepsy Progressive Myoclonic Type 3:

Name: Epilepsy Progressive Myoclonic Type 3 20
Epilepsy, Progressive Myoclonic 3 29 6
Epilepsy, Myoclonic, Progressive, Type 3 39
Progressive Myoclonic Epilepsy 3 20
Epm 3 20

Classifications:



Summaries for Epilepsy Progressive Myoclonic Type 3

MalaCards based summary : Epilepsy Progressive Myoclonic Type 3, also known as epilepsy, progressive myoclonic 3, is related to epilepsy, progressive myoclonic, 3, with or without intracellular inclusions and progressive myoclonus epilepsy 3, and has symptoms including ataxia, truncal and myoclonic seizures. An important gene associated with Epilepsy Progressive Myoclonic Type 3 is KCTD7 (Potassium Channel Tetramerization Domain Containing 7).

Symptoms & Phenotypes for Epilepsy Progressive Myoclonic Type 3

UMLS symptoms related to Epilepsy Progressive Myoclonic Type 3:


ataxia, truncal; myoclonic seizures

Drugs & Therapeutics for Epilepsy Progressive Myoclonic Type 3

Search Clinical Trials , NIH Clinical Center for Epilepsy Progressive Myoclonic Type 3

Genetic Tests for Epilepsy Progressive Myoclonic Type 3

Genetic tests related to Epilepsy Progressive Myoclonic Type 3:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic 3 29 KCTD7

Anatomical Context for Epilepsy Progressive Myoclonic Type 3

Publications for Epilepsy Progressive Myoclonic Type 3

Articles related to Epilepsy Progressive Myoclonic Type 3:

# Title Authors PMID Year
1
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 6
27742667 2016
2
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
3
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 6
22748208 2012
4
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 6
22693283 2012
5
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 6
17455289 2007
6
[Propofol with/without N2O versus thiopentone-isoflurane in surgery of supratentorial tumors]. 6
2274208 1990
7
A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy. 61
33767931 2021

Variations for Epilepsy Progressive Myoclonic Type 3

ClinVar genetic disease variations for Epilepsy Progressive Myoclonic Type 3:

6 (show top 50) (show all 201)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCTD7 NM_153033.5(KCTD7):c.529C>T (p.Arg177Cys) SNV Affects 978068 GRCh37: 7:66103878-66103878
GRCh38: 7:66638891-66638891
2 KCTD7 NM_153033.4(KCTD7):c.458G>A (p.Arg153His) SNV Uncertain significance, Affects 561040 rs765235486 GRCh37: 7:66103383-66103383
GRCh38: 7:66638396-66638396
3 KCTD7 NM_153033.4(KCTD7):c.594del (p.Ile199fs) Deletion Pathogenic 37009 rs727502785 GRCh37: 7:66103941-66103941
GRCh38: 7:66638954-66638954
4 KCTD7 NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter) SNV Pathogenic 843 rs267607199 GRCh37: 7:66098412-66098412
GRCh38: 7:66633425-66633425
5 KCTD7 NM_153033.4(KCTD7):c.818A>T (p.Asn273Ile) SNV Pathogenic 37011 rs387907261 GRCh37: 7:66104167-66104167
GRCh38: 7:66639180-66639180
6 KCTD7 NM_153033.4(KCTD7):c.343G>T (p.Asp115Tyr) SNV Pathogenic 37012 rs387907262 GRCh37: 7:66103268-66103268
GRCh38: 7:66638281-66638281
7 KCTD7 NM_153033.4(KCTD7):c.322C>A (p.Leu108Met) SNV Pathogenic 37013 rs387907263 GRCh37: 7:66103247-66103247
GRCh38: 7:66638260-66638260
8 KCTD7 NC_000007.14:g.(?_66629045)_(66640414_?)del Deletion Pathogenic 831752 GRCh37: 7:66094032-66105401
GRCh38:
9 KCTD7 NM_153033.5(KCTD7):c.331del (p.Leu111fs) Deletion Pathogenic 860762 GRCh37: 7:66103255-66103255
GRCh38: 7:66638268-66638268
10 KCTD7 NC_000007.14:g.(?_66638233)_(66639252_?)del Deletion Pathogenic 583587 GRCh37: 7:66103220-66104239
GRCh38: 7:66638233-66639252
11 KCTD7 NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) SNV Pathogenic 36926 rs387907246 GRCh37: 7:66103899-66103899
GRCh38: 7:66638912-66638912
12 KCTD7 NM_153033.4(KCTD7):c.456G>A (p.Val152=) SNV Likely pathogenic 206004 rs796052686 GRCh37: 7:66103381-66103381
GRCh38: 7:66638394-66638394
13 KCTD7 NM_153033.4(KCTD7):c.145-2A>G SNV Likely pathogenic 520584 rs1554397774 GRCh37: 7:66098260-66098260
GRCh38: 7:66633273-66633273
14 KCTD7 NC_000007.13:g.(?_66098242)_(66098451_?)dup Duplication Likely pathogenic 584347 GRCh37: 7:66098242-66098451
GRCh38: 7:66633255-66633464
15 KCTD7 NM_153033.4(KCTD7):c.551G>A (p.Arg184His) SNV Likely pathogenic 800962 rs747676224 GRCh37: 7:66103900-66103900
GRCh38: 7:66638913-66638913
16 KCTD7 NM_153033.4(KCTD7):c.314+1G>A SNV Likely pathogenic 536951 rs1554397834 GRCh37: 7:66098432-66098432
GRCh38: 7:66633445-66633445
17 KCTD7 NM_153033.4(KCTD7):c.621C>A (p.Leu207=) SNV Conflicting interpretations of pathogenicity 502314 rs376944331 GRCh37: 7:66103970-66103970
GRCh38: 7:66638983-66638983
18 KCTD7 NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) SNV Conflicting interpretations of pathogenicity 206012 rs149255570 GRCh37: 7:66098373-66098373
GRCh38: 7:66633386-66633386
19 KCTD7 NM_153033.4(KCTD7):c.384G>A (p.Glu128=) SNV Conflicting interpretations of pathogenicity 138057 rs145238250 GRCh37: 7:66103309-66103309
GRCh38: 7:66638322-66638322
20 KCTD7 NM_153033.4(KCTD7):c.273C>T (p.Ser91=) SNV Conflicting interpretations of pathogenicity 206008 rs139585796 GRCh37: 7:66098390-66098390
GRCh38: 7:66633403-66633403
21 KCTD7 NM_153033.4(KCTD7):c.687T>C (p.Asp229=) SNV Conflicting interpretations of pathogenicity 138054 rs372150992 GRCh37: 7:66104036-66104036
GRCh38: 7:66639049-66639049
22 KCTD7 NM_153033.4(KCTD7):c.533C>T (p.Ala178Val) SNV Conflicting interpretations of pathogenicity 559579 rs368001837 GRCh37: 7:66103882-66103882
GRCh38: 7:66638895-66638895
23 KCTD7 NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) SNV Conflicting interpretations of pathogenicity 37010 rs387907260 GRCh37: 7:66098397-66098397
GRCh38: 7:66633410-66633410
24 KCTD7 NM_153033.4(KCTD7):c.335G>A (p.Arg112His) SNV Conflicting interpretations of pathogenicity 206015 rs774026720 GRCh37: 7:66103260-66103260
GRCh38: 7:66638273-66638273
25 KCTD7 NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys) SNV Uncertain significance 1000932 GRCh37: 7:66103259-66103259
GRCh38: 7:66638272-66638272
26 KCTD7 NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys) SNV Uncertain significance 1002347 GRCh37: 7:66094097-66094097
GRCh38: 7:66629110-66629110
27 KCTD7 NM_153033.5(KCTD7):c.278G>A (p.Gly93Asp) SNV Uncertain significance 1004564 GRCh37: 7:66098395-66098395
GRCh38: 7:66633408-66633408
28 KCTD7 NM_153033.5(KCTD7):c.144+4C>G SNV Uncertain significance 1004579 GRCh37: 7:66094199-66094199
GRCh38: 7:66629212-66629212
29 KCTD7 NM_153033.5(KCTD7):c.759G>A (p.Ser253=) SNV Uncertain significance 1005142 GRCh37: 7:66104108-66104108
GRCh38: 7:66639121-66639121
30 KCTD7 NM_153033.5(KCTD7):c.611G>A (p.Cys204Tyr) SNV Uncertain significance 1006234 GRCh37: 7:66103960-66103960
GRCh38: 7:66638973-66638973
31 KCTD7 NM_153033.5(KCTD7):c.414G>A (p.Leu138=) SNV Uncertain significance 1006460 GRCh37: 7:66103339-66103339
GRCh38: 7:66638352-66638352
32 KCTD7 NM_153033.5(KCTD7):c.523C>G (p.Arg175Gly) SNV Uncertain significance 1006968 GRCh37: 7:66103872-66103872
GRCh38: 7:66638885-66638885
33 KCTD7 NM_153033.4(KCTD7):c.61T>G (p.Ser21Ala) SNV Uncertain significance 804972 rs753471689 GRCh37: 7:66094112-66094112
GRCh38: 7:66629125-66629125
34 KCTD7 NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) SNV Uncertain significance 360587 rs781725855 GRCh37: 7:66103328-66103328
GRCh38: 7:66638341-66638341
35 KCTD7 NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) SNV Uncertain significance 195417 rs201296399 GRCh37: 7:66098307-66098307
GRCh38: 7:66633320-66633320
36 KCTD7 NM_153033.4(KCTD7):c.636T>A (p.Phe212Leu) SNV Uncertain significance 665793 rs752360120 GRCh37: 7:66103985-66103985
GRCh38: 7:66638998-66638998
37 KCTD7 NM_153033.5(KCTD7):c.641G>A (p.Arg214Gln) SNV Uncertain significance 935018 GRCh37: 7:66103990-66103990
GRCh38: 7:66639003-66639003
38 KCTD7 NM_153033.5(KCTD7):c.107C>T (p.Thr36Met) SNV Uncertain significance 936396 GRCh37: 7:66094158-66094158
GRCh38: 7:66629171-66629171
39 KCTD7 NM_153033.4(KCTD7):c.362G>T (p.Arg121Leu) SNV Uncertain significance 206020 rs199624315 GRCh37: 7:66103287-66103287
GRCh38: 7:66638300-66638300
40 KCTD7 NM_153033.4(KCTD7):c.193C>T (p.Arg65Cys) SNV Uncertain significance 206011 rs200321023 GRCh37: 7:66098310-66098310
GRCh38: 7:66633323-66633323
41 CLN3 NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) SNV Uncertain significance 205105 rs137906617 GRCh37: 16:28499964-28499964
GRCh38: 16:28488643-28488643
42 KCTD7 NM_153033.4(KCTD7):c.710C>G (p.Ala237Gly) SNV Uncertain significance 662720 rs1584399776 GRCh37: 7:66104059-66104059
GRCh38: 7:66639072-66639072
43 KCTD7 NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) SNV Uncertain significance 848103 GRCh37: 7:66098368-66098368
GRCh38: 7:66633381-66633381
44 KCTD7 NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys) SNV Uncertain significance 855614 GRCh37: 7:66098334-66098334
GRCh38: 7:66633347-66633347
45 KCTD7 NM_153033.5(KCTD7):c.121G>A (p.Ala41Thr) SNV Uncertain significance 936004 GRCh37: 7:66094172-66094172
GRCh38: 7:66629185-66629185
46 KCTD7 NM_153033.4(KCTD7):c.784C>G (p.Gln262Glu) SNV Uncertain significance 285525 rs886043127 GRCh37: 7:66104133-66104133
GRCh38: 7:66639146-66639146
47 KCTD7 NM_153033.5(KCTD7):c.257A>G (p.Tyr86Cys) SNV Uncertain significance 944337 GRCh37: 7:66098374-66098374
GRCh38: 7:66633387-66633387
48 KCTD7 NM_153033.5(KCTD7):c.758C>T (p.Ser253Leu) SNV Uncertain significance 966921 GRCh37: 7:66104107-66104107
GRCh38: 7:66639120-66639120
49 KCTD7 NM_153033.5(KCTD7):c.181C>T (p.His61Tyr) SNV Uncertain significance 911917 GRCh37: 7:66098298-66098298
GRCh38: 7:66633311-66633311
50 KCTD7 NM_153033.5(KCTD7):c.698G>A (p.Gly233Glu) SNV Uncertain significance 1054231 GRCh37: 7:66104047-66104047
GRCh38: 7:66639060-66639060

Expression for Epilepsy Progressive Myoclonic Type 3

Search GEO for disease gene expression data for Epilepsy Progressive Myoclonic Type 3.

Pathways for Epilepsy Progressive Myoclonic Type 3

GO Terms for Epilepsy Progressive Myoclonic Type 3

Sources for Epilepsy Progressive Myoclonic Type 3

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