FAME5
MCID: EPL103
MIFTS: 20

Epilepsy, Familial Adult Myoclonic, 5 (FAME5)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 5

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 5:

Name: Epilepsy, Familial Adult Myoclonic, 5 57 75 29 6 73
Fcmte5 57 75
Fame5 57 75
Cortical Myoclonic Tremor with Epilepsy, Familial, 5; Fcmte5 57
Cortical Myoclonic Tremor with Epilepsy, Familial, 5 57
Familial Cortical Myoclonic Tremor with Epilepsy 5 75
Epilepsy, Myoclonic, Adult, Familial, Type 5 40
Epilepsy, Myoclonic, Familial Adult, 5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated september 2013)
onset in the second decade
tremors develop after seizures
good seizure control with medication


HPO:

32
epilepsy, familial adult myoclonic, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615400
MeSH 44 D004831
UMLS 73 C3809374

Summaries for Epilepsy, Familial Adult Myoclonic, 5

UniProtKB/Swiss-Prot : 75 Epilepsy, familial adult myoclonic, 5: A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 5, is also known as fcmte5, and has symptoms including myoclonic seizures and depressive symptoms. An important gene associated with Epilepsy, Familial Adult Myoclonic, 5 is CNTN2 (Contactin 2). Related phenotypes are tremor and generalized tonic-clonic seizures

OMIM : 57 Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013). (615400)

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 5

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
head nodding
seizures, focal
seizures, myoclonic
generalized tonic-clonic seizures (gtcs)
auditory, olfactory, and visual auras
more
Neurologic Behavioral Psychiatric Manifestations:
depressive symptoms


Clinical features from OMIM:

615400

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 5:

32
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 generalized tonic-clonic seizures 32 HP:0002069
3 focal sensory seizure 32 HP:0011157

UMLS symptoms related to Epilepsy, Familial Adult Myoclonic, 5:


myoclonic seizures, depressive symptoms

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 5

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 5

Genetic tests related to Epilepsy, Familial Adult Myoclonic, 5:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Adult Myoclonic, 5 29 CNTN2

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 5

Publications for Epilepsy, Familial Adult Myoclonic, 5

Variations for Epilepsy, Familial Adult Myoclonic, 5

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 5:

6 (show top 50) (show all 140)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNTN2 NM_005076.4(CNTN2): c.503delG (p.Trp168Cysfs) deletion Pathogenic rs398122387 GRCh37 Chromosome 1, 205028227: 205028227
2 CNTN2 NM_005076.4(CNTN2): c.503delG (p.Trp168Cysfs) deletion Pathogenic rs398122387 GRCh38 Chromosome 1, 205059099: 205059099
3 CNTN2 NM_005076.4(CNTN2): c.505C> T (p.Leu169Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs142502980 GRCh37 Chromosome 1, 205028229: 205028229
4 CNTN2 NM_005076.4(CNTN2): c.505C> T (p.Leu169Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs142502980 GRCh38 Chromosome 1, 205059101: 205059101
5 CNTN2 NM_005076.4(CNTN2): c.1460C> T (p.Thr487Ile) single nucleotide variant Uncertain significance rs116647440 GRCh37 Chromosome 1, 205033819: 205033819
6 CNTN2 NM_005076.4(CNTN2): c.178G> A (p.Ala60Thr) single nucleotide variant Benign rs12076297 GRCh37 Chromosome 1, 205027156: 205027156
7 CNTN2 NM_005076.4(CNTN2): c.178G> A (p.Ala60Thr) single nucleotide variant Benign rs12076297 GRCh38 Chromosome 1, 205058028: 205058028
8 CNTN2 NM_005076.4(CNTN2): c.423C> T (p.Asp141=) single nucleotide variant Likely benign rs774281069 GRCh37 Chromosome 1, 205027727: 205027727
9 CNTN2 NM_005076.4(CNTN2): c.423C> T (p.Asp141=) single nucleotide variant Likely benign rs774281069 GRCh38 Chromosome 1, 205058599: 205058599
10 CNTN2 NM_005076.4(CNTN2): c.536C> T (p.Thr179Met) single nucleotide variant Uncertain significance rs376459307 GRCh37 Chromosome 1, 205028260: 205028260
11 CNTN2 NM_005076.4(CNTN2): c.536C> T (p.Thr179Met) single nucleotide variant Uncertain significance rs376459307 GRCh38 Chromosome 1, 205059132: 205059132
12 CNTN2 NM_005076.4(CNTN2): c.792T> G (p.Phe264Leu) single nucleotide variant Uncertain significance rs183799891 GRCh37 Chromosome 1, 205028805: 205028805
13 CNTN2 NM_005076.4(CNTN2): c.792T> G (p.Phe264Leu) single nucleotide variant Uncertain significance rs183799891 GRCh38 Chromosome 1, 205059677: 205059677
14 CNTN2 NM_005076.4(CNTN2): c.1241-3T> C single nucleotide variant Likely benign rs200577280 GRCh37 Chromosome 1, 205033447: 205033447
15 CNTN2 NM_005076.4(CNTN2): c.1241-3T> C single nucleotide variant Likely benign rs200577280 GRCh38 Chromosome 1, 205064319: 205064319
16 CNTN2 NM_005076.4(CNTN2): c.1786G> A (p.Ala596Thr) single nucleotide variant Uncertain significance rs556646437 GRCh37 Chromosome 1, 205035007: 205035007
17 CNTN2 NM_005076.4(CNTN2): c.1786G> A (p.Ala596Thr) single nucleotide variant Uncertain significance rs556646437 GRCh38 Chromosome 1, 205065879: 205065879
18 CNTN2 NM_005076.4(CNTN2): c.2132C> T (p.Ser711Leu) single nucleotide variant Uncertain significance rs114879710 GRCh37 Chromosome 1, 205038625: 205038625
19 CNTN2 NM_005076.4(CNTN2): c.2132C> T (p.Ser711Leu) single nucleotide variant Uncertain significance rs114879710 GRCh38 Chromosome 1, 205069497: 205069497
20 CNTN2 NM_005076.4(CNTN2): c.2340C> G (p.Pro780=) single nucleotide variant Likely benign rs975647789 GRCh37 Chromosome 1, 205039098: 205039098
21 CNTN2 NM_005076.4(CNTN2): c.2340C> G (p.Pro780=) single nucleotide variant Likely benign rs975647789 GRCh38 Chromosome 1, 205069970: 205069970
22 CNTN2 NM_005076.4(CNTN2): c.2469G> A (p.Gly823=) single nucleotide variant Benign rs138090348 GRCh37 Chromosome 1, 205039591: 205039591
23 CNTN2 NM_005076.4(CNTN2): c.2469G> A (p.Gly823=) single nucleotide variant Benign rs138090348 GRCh38 Chromosome 1, 205070463: 205070463
24 CNTN2 NM_005076.4(CNTN2): c.1115G> A (p.Arg372Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 205062444: 205062444
25 CNTN2 NM_005076.4(CNTN2): c.186C> T (p.Arg62=) single nucleotide variant Likely benign rs762058787 GRCh37 Chromosome 1, 205027164: 205027164
26 CNTN2 NM_005076.4(CNTN2): c.186C> T (p.Arg62=) single nucleotide variant Likely benign rs762058787 GRCh38 Chromosome 1, 205058036: 205058036
27 CNTN2 NM_005076.4(CNTN2): c.689C> T (p.Ala230Val) single nucleotide variant Uncertain significance rs138454536 GRCh37 Chromosome 1, 205028413: 205028413
28 CNTN2 NM_005076.4(CNTN2): c.689C> T (p.Ala230Val) single nucleotide variant Uncertain significance rs138454536 GRCh38 Chromosome 1, 205059285: 205059285
29 CNTN2 NM_005076.4(CNTN2): c.704G> A (p.Arg235Gln) single nucleotide variant Uncertain significance rs2229867 GRCh37 Chromosome 1, 205028717: 205028717
30 CNTN2 NM_005076.4(CNTN2): c.704G> A (p.Arg235Gln) single nucleotide variant Uncertain significance rs2229867 GRCh38 Chromosome 1, 205059589: 205059589
31 CNTN2 NM_005076.4(CNTN2): c.1115G> A (p.Arg372Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 205031572: 205031572
32 CNTN2 NM_005076.4(CNTN2): c.1460C> T (p.Thr487Ile) single nucleotide variant Uncertain significance rs116647440 GRCh38 Chromosome 1, 205064691: 205064691
33 CNTN2 NM_005076.4(CNTN2): c.1516C> A (p.Arg506=) single nucleotide variant Benign rs114903768 GRCh37 Chromosome 1, 205033875: 205033875
34 CNTN2 NM_005076.4(CNTN2): c.1516C> A (p.Arg506=) single nucleotide variant Benign rs114903768 GRCh38 Chromosome 1, 205064747: 205064747
35 CNTN2 NM_005076.4(CNTN2): c.1734G> A (p.Gln578=) single nucleotide variant Likely benign rs200403480 GRCh37 Chromosome 1, 205034955: 205034955
36 CNTN2 NM_005076.4(CNTN2): c.1734G> A (p.Gln578=) single nucleotide variant Likely benign rs200403480 GRCh38 Chromosome 1, 205065827: 205065827
37 CNTN2 NM_005076.4(CNTN2): c.63C> T (p.Ser21=) single nucleotide variant Benign rs149630443 GRCh37 Chromosome 1, 205022376: 205022376
38 CNTN2 NM_005076.4(CNTN2): c.63C> T (p.Ser21=) single nucleotide variant Benign rs149630443 GRCh38 Chromosome 1, 205053248: 205053248
39 CNTN2 NM_005076.4(CNTN2): c.297C> T (p.Asn99=) single nucleotide variant Benign rs9787172 GRCh37 Chromosome 1, 205027390: 205027390
40 CNTN2 NM_005076.4(CNTN2): c.297C> T (p.Asn99=) single nucleotide variant Benign rs9787172 GRCh38 Chromosome 1, 205058262: 205058262
41 CNTN2 NM_005076.4(CNTN2): c.820C> T (p.Arg274Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 205030395: 205030395
42 CNTN2 NM_005076.4(CNTN2): c.820C> T (p.Arg274Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 205061267: 205061267
43 CNTN2 NM_005076.4(CNTN2): c.1309C> G (p.Leu437Val) single nucleotide variant Benign rs79431021 GRCh37 Chromosome 1, 205033518: 205033518
44 CNTN2 NM_005076.4(CNTN2): c.1309C> G (p.Leu437Val) single nucleotide variant Benign rs79431021 GRCh38 Chromosome 1, 205064390: 205064390
45 CNTN2 NM_005076.4(CNTN2): c.1392-6C> T single nucleotide variant Likely benign rs749779814 GRCh37 Chromosome 1, 205033745: 205033745
46 CNTN2 NM_005076.4(CNTN2): c.1392-6C> T single nucleotide variant Likely benign rs749779814 GRCh38 Chromosome 1, 205064617: 205064617
47 CNTN2 NM_005076.4(CNTN2): c.1405C> A (p.Pro469Thr) single nucleotide variant Uncertain significance rs147693556 GRCh37 Chromosome 1, 205033764: 205033764
48 CNTN2 NM_005076.4(CNTN2): c.1405C> A (p.Pro469Thr) single nucleotide variant Uncertain significance rs147693556 GRCh38 Chromosome 1, 205064636: 205064636
49 CNTN2 NM_005076.4(CNTN2): c.1695G> A (p.Val565=) single nucleotide variant Uncertain significance rs148801784 GRCh37 Chromosome 1, 205034390: 205034390
50 CNTN2 NM_005076.4(CNTN2): c.1695G> A (p.Val565=) single nucleotide variant Uncertain significance rs148801784 GRCh38 Chromosome 1, 205065262: 205065262

Expression for Epilepsy, Familial Adult Myoclonic, 5

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 5.

Pathways for Epilepsy, Familial Adult Myoclonic, 5

GO Terms for Epilepsy, Familial Adult Myoclonic, 5

Sources for Epilepsy, Familial Adult Myoclonic, 5

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....