FAME5
MCID: EPL103
MIFTS: 24

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 74 29 6 72
Cortical Myoclonic Tremor with Epilepsy, Familial, 5 57 74
Fcmte5 57 74
Fame5 57 74
Cortical Myoclonic Tremor with Epilepsy, Familial, 5; Fcmte5 57
Familial Cortical Myoclonic Tremor with Epilepsy 5 74
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:

MeSH 44 D004831
MedGen 42 C3809374
UMLS 72 C3809374

Summaries for Epilepsy, Familial Adult Myoclonic, 5

UniProtKB/Swiss-Prot : 74 Epilepsy, familial adult myoclonic, 5: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. 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. Some patients exhibit mild cognitive impairment. FAME5 is characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Inheritance is autosomal recessive.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 5, is also known as cortical myoclonic tremor with epilepsy, familial, 5, and has symptoms including depressive symptoms and myoclonic seizures. 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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
depressive symptoms

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

Clinical features from OMIM:

615400

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


depressive symptoms, myoclonic seizures

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

Articles related to Epilepsy, Familial Adult Myoclonic, 5:

# Title Authors PMID Year
1
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. 8 71
23518707 2013
2
Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 8
23803302 2013
3
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 8
23803304 2013

Variations for Epilepsy, Familial Adult Myoclonic, 5

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

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CNTN2 NM_005076.5(CNTN2): c.504del (p.Trp168fs) deletion Pathogenic rs398122387 1:205028227-205028227 1:205059099-205059099
2 CNTN2 NM_005076.5(CNTN2): c.505C> T (p.Leu169Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs142502980 1:205028229-205028229 1:205059101-205059101
3 CNTN2 NM_005076.5(CNTN2): c.536C> T (p.Thr179Met) single nucleotide variant Uncertain significance rs376459307 1:205028260-205028260 1:205059132-205059132
4 CNTN2 NM_005076.5(CNTN2): c.792T> G (p.Phe264Leu) single nucleotide variant Uncertain significance rs183799891 1:205028805-205028805 1:205059677-205059677
5 CNTN2 NM_005076.5(CNTN2): c.1786G> A (p.Ala596Thr) single nucleotide variant Uncertain significance rs556646437 1:205035007-205035007 1:205065879-205065879
6 CNTN2 NM_005076.5(CNTN2): c.2132C> T (p.Ser711Leu) single nucleotide variant Uncertain significance rs114879710 1:205038625-205038625 1:205069497-205069497
7 CNTN2 NM_005076.5(CNTN2): c.689C> T (p.Ala230Val) single nucleotide variant Uncertain significance rs138454536 1:205028413-205028413 1:205059285-205059285
8 CNTN2 NM_005076.5(CNTN2): c.704G> A (p.Arg235Gln) single nucleotide variant Uncertain significance rs2229867 1:205028717-205028717 1:205059589-205059589
9 CNTN2 NM_005076.5(CNTN2): c.1115G> A (p.Arg372Gln) single nucleotide variant Uncertain significance rs1223229519 1:205031572-205031572 1:205062444-205062444
10 CNTN2 NM_005076.5(CNTN2): c.1460C> T (p.Thr487Ile) single nucleotide variant Uncertain significance rs116647440 1:205033819-205033819 1:205064691-205064691
11 CNTN2 NM_005076.5(CNTN2): c.820C> T (p.Arg274Cys) single nucleotide variant Uncertain significance rs1473353987 1:205030395-205030395 1:205061267-205061267
12 CNTN2 NM_005076.5(CNTN2): c.1405C> A (p.Pro469Thr) single nucleotide variant Uncertain significance rs147693556 1:205033764-205033764 1:205064636-205064636
13 CNTN2 NM_005076.5(CNTN2): c.1695G> A (p.Val565=) single nucleotide variant Uncertain significance rs148801784 1:205034390-205034390 1:205065262-205065262
14 CNTN2 NM_005076.5(CNTN2): c.2032T> A (p.Trp678Arg) single nucleotide variant Uncertain significance rs1553347245 1:205036285-205036285 1:205067157-205067157
15 CNTN2 NM_005076.5(CNTN2): c.2662G> A (p.Val888Met) single nucleotide variant Uncertain significance rs775579054 1:205041192-205041192 1:205072064-205072064
16 CNTN2 NM_005076.5(CNTN2): c.358G> A (p.Val120Ile) single nucleotide variant Uncertain significance rs1424524492 1:205027451-205027451 1:205058323-205058323
17 CNTN2 NM_005076.5(CNTN2): c.514G> A (p.Glu172Lys) single nucleotide variant Uncertain significance rs763168456 1:205028238-205028238 1:205059110-205059110
18 CNTN2 NM_005076.5(CNTN2): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance rs200893856 1:205030396-205030396 1:205061268-205061268
19 CNTN2 NM_005076.5(CNTN2): c.1441T> C (p.Ser481Pro) single nucleotide variant Uncertain significance rs1362090710 1:205033800-205033800 1:205064672-205064672
20 CNTN2 NM_005076.5(CNTN2): c.184C> T (p.Arg62Cys) single nucleotide variant Uncertain significance 1:205027162-205027162 1:205058034-205058034
21 CNTN2 NM_005076.5(CNTN2): c.1915G> A (p.Ala639Thr) single nucleotide variant Uncertain significance 1:205035667-205035667 1:205066539-205066539
22 CNTN2 NM_005076.5(CNTN2): c.635A> T (p.His212Leu) single nucleotide variant Uncertain significance 1:205028359-205028359 1:205059231-205059231
23 CNTN2 NM_005076.5(CNTN2): c.1295G> A (p.Arg432His) single nucleotide variant Uncertain significance 1:205033504-205033504 1:205064376-205064376
24 CNTN2 NM_005076.5(CNTN2): c.2686A> T (p.Thr896Ser) single nucleotide variant Uncertain significance 1:205041216-205041216 1:205072088-205072088
25 CNTN2 NM_005076.5(CNTN2): c.235G> A (p.Glu79Lys) single nucleotide variant Uncertain significance 1:205027328-205027328 1:205058200-205058200
26 CNTN2 NM_005076.5(CNTN2): c.424C> T (p.Pro142Ser) single nucleotide variant Uncertain significance 1:205027728-205027728 1:205058600-205058600
27 CNTN2 NM_005076.5(CNTN2): c.1820C> T (p.Pro607Leu) single nucleotide variant Uncertain significance 1:205035572-205035572 1:205066444-205066444
28 CNTN2 NM_005076.5(CNTN2): c.2741G> A (p.Arg914Gln) single nucleotide variant Uncertain significance 1:205041620-205041620 1:205072492-205072492
29 CNTN2 NM_005076.5(CNTN2): c.1963C> G (p.Gln655Glu) single nucleotide variant Uncertain significance 1:205035715-205035715 1:205066587-205066587
30 CNTN2 NM_005076.5(CNTN2): c.223A> G (p.Met75Val) single nucleotide variant Uncertain significance 1:205027316-205027316 1:205058188-205058188
31 CNTN2 NM_005076.5(CNTN2): c.745A> G (p.Thr249Ala) single nucleotide variant Uncertain significance 1:205028758-205028758 1:205059630-205059630
32 CNTN2 NM_005076.5(CNTN2): c.1495A> G (p.Ser499Gly) single nucleotide variant Uncertain significance 1:205033854-205033854 1:205064726-205064726
33 CNTN2 NM_005076.5(CNTN2): c.3066C> T (p.Gly1022=) single nucleotide variant Uncertain significance 1:205042836-205042836 1:205073708-205073708
34 CNTN2 NM_005076.5(CNTN2): c.1367C> T (p.Thr456Met) single nucleotide variant Uncertain significance 1:205033576-205033576 1:205064448-205064448
35 CNTN2 NM_005076.5(CNTN2): c.2879C> T (p.Thr960Met) single nucleotide variant Uncertain significance 1:205042230-205042230 1:205073102-205073102
36 CNTN2 NM_005076.5(CNTN2): c.3038T> C (p.Met1013Thr) single nucleotide variant Uncertain significance 1:205042808-205042808 1:205073680-205073680
37 CNTN2 NM_005076.5(CNTN2): c.1986C> A (p.Asn662Lys) single nucleotide variant Uncertain significance 1:205036239-205036239 1:205067111-205067111
38 CNTN2 NM_005076.5(CNTN2): c.2002G> A (p.Glu668Lys) single nucleotide variant Uncertain significance 1:205036255-205036255 1:205067127-205067127
39 CNTN2 NM_005076.5(CNTN2): c.1555G> A (p.Asp519Asn) single nucleotide variant Uncertain significance 1:205034250-205034250 1:205065122-205065122
40 CNTN2 NM_005076.5(CNTN2): c.158C> T (p.Thr53Met) single nucleotide variant Uncertain significance 1:205027136-205027136 1:205058008-205058008
41 CNTN2 NM_005076.5(CNTN2): c.913G> C (p.Glu305Gln) single nucleotide variant Uncertain significance 1:205030488-205030488 1:205061360-205061360
42 CNTN2 NM_005076.5(CNTN2): c.949G> A (p.Val317Met) single nucleotide variant Uncertain significance 1:205030524-205030524 1:205061396-205061396
43 CNTN2 NM_005076.5(CNTN2): c.1034G> A (p.Arg345His) single nucleotide variant Uncertain significance 1:205031053-205031053 1:205061925-205061925
44 CNTN2 NM_005076.5(CNTN2): c.1171G> A (p.Gly391Ser) single nucleotide variant Uncertain significance 1:205031628-205031628 1:205062500-205062500
45 CNTN2 NM_005076.5(CNTN2): c.1290G> A (p.Ala430=) single nucleotide variant Uncertain significance 1:205033499-205033499 1:205064371-205064371
46 CNTN2 NM_005076.5(CNTN2): c.1438C> T (p.Arg480Trp) single nucleotide variant Uncertain significance 1:205033797-205033797 1:205064669-205064669
47 CNTN2 NM_005076.5(CNTN2): c.1439G> A (p.Arg480Gln) single nucleotide variant Uncertain significance 1:205033798-205033798 1:205064670-205064670
48 CNTN2 NM_005076.5(CNTN2): c.1516C> T (p.Arg506Ter) single nucleotide variant Uncertain significance 1:205033875-205033875 1:205064747-205064747
49 CNTN2 NM_005076.5(CNTN2): c.2026A> G (p.Thr676Ala) single nucleotide variant Uncertain significance 1:205036279-205036279 1:205067151-205067151
50 CNTN2 NM_005076.5(CNTN2): c.2104A> G (p.Lys702Glu) single nucleotide variant Uncertain significance 1:205036357-205036357 1:205067229-205067229

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....