EPM3
MCID: EPL206
MIFTS: 25

Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions (EPM3)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions:

Name: Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 57
Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 57 75 13
Epilepsy, Progressive Myoclonic 3 29 6 73
Epm3 57 59 75
Cln14 57 75
Progressive Myoclonic Epilepsy Due to Kctd7 Deficiency 59
Epilepsy, Myoclonic, Progressive, Type 3 ) 40
Ceroid Lipofuscinosis, Neuronal, 14; Cln14 57
Progressive Myoclonic Epilepsy Type 3 59
Progressive Myoclonus Epilepsy Type 3 59
Ceroid Lipofuscinosis, Neuronal, 14 57
Neuronal Ceroid Lipofuscinosis 14 75
Progressive Myoclonic Epilepsy 3 75
Cln14 Disease 29
Pme Type 3 59

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset before age 2 years
severe phenotype
two unrelated families have been reported (last curated july 2012)
only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis


HPO:

32
epilepsy, progressive myoclonic, 3, with or without intracellular inclusions:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

OMIM : 57 Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730). (611726)

MalaCards based summary : Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions, also known as epilepsy, progressive myoclonic 3, with or without intracellular inclusions, is related to epilepsy progressive myoclonic type 3, and has symptoms including ataxia, truncal and myoclonic seizures. An important gene associated with Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions is KCTD7 (Potassium Channel Tetramerization Domain Containing 7). Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and dysarthria

UniProtKB/Swiss-Prot : 75 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions: An autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis.

Related Diseases for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

Diseases related to Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy progressive myoclonic type 3 11.3

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
truncal ataxia
mental retardation
myoclonic seizures
cerebellar atrophy (in 1 family)
more
Head And Neck Head:
microcephaly (in 1 family)

Laboratory Abnormalities:
'fingerprint profiles' ultrastructurally in cells
granular osmiophilic cytoplasmic deposits ultrastructurally in cells
'rectilinear profiles' ultrastructurally in cells

Head And Neck Eyes:
visual loss (in 1 family)
optic atrophy, mild (in 1 patient)


Clinical features from OMIM:

611726

Human phenotypes related to Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 dysarthria 32 HP:0001260
3 microcephaly 32 occasional (7.5%) HP:0000252
4 optic atrophy 32 HP:0000648
5 generalized myoclonic seizures 32 HP:0002123
6 visual loss 32 occasional (7.5%) HP:0000572
7 truncal ataxia 32 HP:0002078
8 cerebellar atrophy 32 occasional (7.5%) HP:0001272
9 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
10 cerebral atrophy 32 occasional (7.5%) HP:0002059
11 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003208

UMLS symptoms related to Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions:


ataxia, truncal, myoclonic seizures

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions

Genetic Tests for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

Genetic tests related to Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic 3 29 KCTD7
2 Cln14 Disease 29

Anatomical Context for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions:

41
Skin, Eye

Publications for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

Variations for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions:

75
# Symbol AA change Variation ID SNP ID
1 KCTD7 p.Arg94Trp VAR_068776 rs387907260
2 KCTD7 p.Leu108Met VAR_068777 rs387907263
3 KCTD7 p.Arg184Cys VAR_068779 rs387907246
4 KCTD7 p.Asn273Ile VAR_068780 rs387907261

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions:

6 (show top 50) (show all 101)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCTD7 NM_153033.4(KCTD7): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs267607199 GRCh37 Chromosome 7, 66098412: 66098412
2 KCTD7 NM_153033.4(KCTD7): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs267607199 GRCh38 Chromosome 7, 66633425: 66633425
3 KCTD7 NM_153033.4(KCTD7): c.550C> T (p.Arg184Cys) single nucleotide variant Likely pathogenic rs387907246 GRCh37 Chromosome 7, 66103899: 66103899
4 KCTD7 NM_153033.4(KCTD7): c.550C> T (p.Arg184Cys) single nucleotide variant Likely pathogenic rs387907246 GRCh38 Chromosome 7, 66638912: 66638912
5 KCTD7 NM_153033.4(KCTD7): c.594delC (p.Ile199Serfs) deletion Pathogenic rs727502785 GRCh38 Chromosome 7, 66638956: 66638956
6 KCTD7 NM_153033.4(KCTD7): c.594delC (p.Ile199Serfs) deletion Pathogenic rs727502785 GRCh37 Chromosome 7, 66103943: 66103943
7 KCTD7 NM_153033.4(KCTD7): c.280C> T (p.Arg94Trp) single nucleotide variant Likely pathogenic rs387907260 GRCh37 Chromosome 7, 66098397: 66098397
8 KCTD7 NM_153033.4(KCTD7): c.280C> T (p.Arg94Trp) single nucleotide variant Likely pathogenic rs387907260 GRCh38 Chromosome 7, 66633410: 66633410
9 KCTD7 NM_153033.4(KCTD7): c.818A> T (p.Asn273Ile) single nucleotide variant Pathogenic rs387907261 GRCh37 Chromosome 7, 66104167: 66104167
10 KCTD7 NM_153033.4(KCTD7): c.818A> T (p.Asn273Ile) single nucleotide variant Pathogenic rs387907261 GRCh38 Chromosome 7, 66639180: 66639180
11 KCTD7 NM_153033.4(KCTD7): c.343G> T (p.Asp115Tyr) single nucleotide variant Pathogenic rs387907262 GRCh37 Chromosome 7, 66103268: 66103268
12 KCTD7 NM_153033.4(KCTD7): c.343G> T (p.Asp115Tyr) single nucleotide variant Pathogenic rs387907262 GRCh38 Chromosome 7, 66638281: 66638281
13 KCTD7 NM_153033.4(KCTD7): c.322C> A (p.Leu108Met) single nucleotide variant Pathogenic rs387907263 GRCh37 Chromosome 7, 66103247: 66103247
14 KCTD7 NM_153033.4(KCTD7): c.322C> A (p.Leu108Met) single nucleotide variant Pathogenic rs387907263 GRCh38 Chromosome 7, 66638260: 66638260
15 KCTD7 NM_153033.4(KCTD7): c.133C> T (p.Leu45=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780370 GRCh37 Chromosome 7, 66094184: 66094184
16 KCTD7 NM_153033.4(KCTD7): c.133C> T (p.Leu45=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780370 GRCh38 Chromosome 7, 66629197: 66629197
17 KCTD7 NM_153033.4(KCTD7): c.654C> T (p.Asp218=) single nucleotide variant Benign/Likely benign rs117194263 GRCh37 Chromosome 7, 66104003: 66104003
18 KCTD7 NM_153033.4(KCTD7): c.654C> T (p.Asp218=) single nucleotide variant Benign/Likely benign rs117194263 GRCh38 Chromosome 7, 66639016: 66639016
19 KCTD7 NM_153033.4(KCTD7): c.687T> C (p.Asp229=) single nucleotide variant Conflicting interpretations of pathogenicity rs372150992 GRCh37 Chromosome 7, 66104036: 66104036
20 KCTD7 NM_153033.4(KCTD7): c.687T> C (p.Asp229=) single nucleotide variant Conflicting interpretations of pathogenicity rs372150992 GRCh38 Chromosome 7, 66639049: 66639049
21 KCTD7 NM_153033.4(KCTD7): c.384G> A (p.Glu128=) single nucleotide variant Conflicting interpretations of pathogenicity rs145238250 GRCh37 Chromosome 7, 66103309: 66103309
22 KCTD7 NM_153033.4(KCTD7): c.384G> A (p.Glu128=) single nucleotide variant Conflicting interpretations of pathogenicity rs145238250 GRCh38 Chromosome 7, 66638322: 66638322
23 KCTD7 NM_153033.4(KCTD7): c.190A> G (p.Thr64Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201296399 GRCh37 Chromosome 7, 66098307: 66098307
24 KCTD7 NM_153033.4(KCTD7): c.190A> G (p.Thr64Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201296399 GRCh38 Chromosome 7, 66633320: 66633320
25 KCTD7 NM_153033.4(KCTD7): c.76G> T (p.Asp26Tyr) single nucleotide variant Uncertain significance rs371919994 GRCh37 Chromosome 7, 66094127: 66094127
26 KCTD7 NM_153033.4(KCTD7): c.76G> T (p.Asp26Tyr) single nucleotide variant Uncertain significance rs371919994 GRCh38 Chromosome 7, 66629140: 66629140
27 KCTD7 NM_153033.4(KCTD7): c.192A> G (p.Thr64=) single nucleotide variant Benign/Likely benign rs142526573 GRCh37 Chromosome 7, 66098309: 66098309
28 KCTD7 NM_153033.4(KCTD7): c.192A> G (p.Thr64=) single nucleotide variant Benign/Likely benign rs142526573 GRCh38 Chromosome 7, 66633322: 66633322
29 KCTD7 NM_153033.4(KCTD7): c.256T> C (p.Tyr86His) single nucleotide variant Uncertain significance rs149255570 GRCh37 Chromosome 7, 66098373: 66098373
30 KCTD7 NM_153033.4(KCTD7): c.256T> C (p.Tyr86His) single nucleotide variant Uncertain significance rs149255570 GRCh38 Chromosome 7, 66633386: 66633386
31 KCTD7 NM_153033.4(KCTD7): c.273C> T (p.Ser91=) single nucleotide variant Conflicting interpretations of pathogenicity rs139585796 GRCh38 Chromosome 7, 66633403: 66633403
32 KCTD7 NM_153033.4(KCTD7): c.273C> T (p.Ser91=) single nucleotide variant Conflicting interpretations of pathogenicity rs139585796 GRCh37 Chromosome 7, 66098390: 66098390
33 KCTD7 NM_153033.4(KCTD7): c.362G> T (p.Arg121Leu) single nucleotide variant Uncertain significance rs199624315 GRCh37 Chromosome 7, 66103287: 66103287
34 KCTD7 NM_153033.4(KCTD7): c.362G> T (p.Arg121Leu) single nucleotide variant Uncertain significance rs199624315 GRCh38 Chromosome 7, 66638300: 66638300
35 KCTD7 NM_153033.4(KCTD7): c.456G> A (p.Val152=) single nucleotide variant Conflicting interpretations of pathogenicity rs796052686 GRCh37 Chromosome 7, 66103381: 66103381
36 KCTD7 NM_153033.4(KCTD7): c.456G> A (p.Val152=) single nucleotide variant Conflicting interpretations of pathogenicity rs796052686 GRCh38 Chromosome 7, 66638394: 66638394
37 KCTD7 NM_153033.4(KCTD7): c.507G> C (p.Arg169=) single nucleotide variant Benign/Likely benign rs142379946 GRCh37 Chromosome 7, 66103856: 66103856
38 KCTD7 NM_153033.4(KCTD7): c.507G> C (p.Arg169=) single nucleotide variant Benign/Likely benign rs142379946 GRCh38 Chromosome 7, 66638869: 66638869
39 KCTD7 NM_153033.4(KCTD7): c.403G> A (p.Gly135Arg) single nucleotide variant Uncertain significance rs781725855 GRCh37 Chromosome 7, 66103328: 66103328
40 KCTD7 NM_153033.4(KCTD7): c.403G> A (p.Gly135Arg) single nucleotide variant Uncertain significance rs781725855 GRCh38 Chromosome 7, 66638341: 66638341
41 KCTD7 NM_153033.4(KCTD7): c.506G> A (p.Arg169Gln) single nucleotide variant Uncertain significance rs745917176 GRCh37 Chromosome 7, 66103855: 66103855
42 KCTD7 NM_153033.4(KCTD7): c.506G> A (p.Arg169Gln) single nucleotide variant Uncertain significance rs745917176 GRCh38 Chromosome 7, 66638868: 66638868
43 KCTD7 NC_000007.14: g.(?_66638253)_(66643229_?)dup duplication Uncertain significance GRCh38 Chromosome 7, 66638253: 66643229
44 KCTD7 NC_000007.14: g.(?_66638233)_(66640414_?)dup duplication Likely benign GRCh37 Chromosome 7, 66103220: 66105401
45 KCTD7 NC_000007.14: g.(?_66638233)_(66640414_?)dup duplication Likely benign GRCh38 Chromosome 7, 66638233: 66640414
46 KCTD7 NM_153033.4(KCTD7): c.534G> A (p.Ala178=) single nucleotide variant Likely benign rs773060529 GRCh37 Chromosome 7, 66103883: 66103883
47 KCTD7 NM_153033.4(KCTD7): c.534G> A (p.Ala178=) single nucleotide variant Likely benign rs773060529 GRCh38 Chromosome 7, 66638896: 66638896
48 KCTD7 NM_153033.4(KCTD7): c.750G> C (p.Thr250=) single nucleotide variant Likely benign rs374256335 GRCh37 Chromosome 7, 66104099: 66104099
49 KCTD7 NM_153033.4(KCTD7): c.750G> C (p.Thr250=) single nucleotide variant Likely benign rs374256335 GRCh38 Chromosome 7, 66639112: 66639112
50 KCTD7 NM_153033.4(KCTD7): c.769C> G (p.Leu257Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 66104118: 66104118

Expression for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

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GO Terms for Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular...

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