FAME5
MCID: EPL103
MIFTS: 23

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 56 73 29 6 71
Cortical Myoclonic Tremor with Epilepsy, Familial, 5 56 73
Fcmte5 56 73
Fame5 56 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 5; Fcmte5 56
Familial Cortical Myoclonic Tremor with Epilepsy 5 73
Epilepsy, Myoclonic, Adult, Familial, Type 5 39
Epilepsy, Myoclonic, Familial Adult, 5 56

Characteristics:

OMIM:

56
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:

31
epilepsy, familial adult myoclonic, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 615400
OMIM Phenotypic Series 56 PS601068
MeSH 43 D004831
MedGen 41 C3809374
SNOMED-CT via HPO 68 258211005 26079004 54200006
UMLS 71 C3809374

Summaries for Epilepsy, Familial Adult Myoclonic, 5

UniProtKB/Swiss-Prot : 73 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 : 56 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:

31
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 generalized tonic-clonic seizures 31 HP:0002069
3 visual auras 31 HP:0011165

Symptoms via clinical synopsis from OMIM:

56
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. 56 6
23518707 2013
2
Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 56
23803302 2013
3
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 56
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 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNTN2 NM_005076.5(CNTN2):c.504del (p.Trp168fs)deletion Pathogenic 64618 rs398122387 1:205028227-205028227 1:205059099-205059099
2 CNTN2 NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)SNV Conflicting interpretations of pathogenicity 522750 rs371816961 1:205031094-205031094 1:205061966-205061966
3 CNTN2 NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)SNV Conflicting interpretations of pathogenicity 474462 rs147693556 1:205033764-205033764 1:205064636-205064636
4 CNTN2 NM_005076.5(CNTN2):c.1695G>A (p.Val565=)SNV Uncertain significance 474466 rs148801784 1:205034390-205034390 1:205065262-205065262
5 CNTN2 NM_005076.5(CNTN2):c.2032T>A (p.Trp678Arg)SNV Uncertain significance 474473 rs1553347245 1:205036285-205036285 1:205067157-205067157
6 CNTN2 NM_005076.5(CNTN2):c.2662G>A (p.Val888Met)SNV Uncertain significance 474479 rs775579054 1:205041192-205041192 1:205072064-205072064
7 CNTN2 NM_005076.5(CNTN2):c.358G>A (p.Val120Ile)SNV Uncertain significance 474483 rs1424524492 1:205027451-205027451 1:205058323-205058323
8 CNTN2 NM_005076.5(CNTN2):c.514G>A (p.Glu172Lys)SNV Uncertain significance 474485 rs763168456 1:205028238-205028238 1:205059110-205059110
9 CNTN2 NM_005076.5(CNTN2):c.821G>A (p.Arg274His)SNV Uncertain significance 474492 rs200893856 1:205030396-205030396 1:205061268-205061268
10 CNTN2 NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro)SNV Uncertain significance 474463 rs1362090710 1:205033800-205033800 1:205064672-205064672
11 CNTN2 NM_005076.5(CNTN2):c.536C>T (p.Thr179Met)SNV Uncertain significance 474486 rs376459307 1:205028260-205028260 1:205059132-205059132
12 CNTN2 NM_005076.5(CNTN2):c.792T>G (p.Phe264Leu)SNV Uncertain significance 474490 rs183799891 1:205028805-205028805 1:205059677-205059677
13 CNTN2 NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr)SNV Uncertain significance 474468 rs556646437 1:205035007-205035007 1:205065879-205065879
14 CNTN2 NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu)SNV Uncertain significance 474474 rs114879710 1:205038625-205038625 1:205069497-205069497
15 CNTN2 NM_005076.5(CNTN2):c.689C>T (p.Ala230Val)SNV Uncertain significance 474488 rs138454536 1:205028413-205028413 1:205059285-205059285
16 CNTN2 NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln)SNV Uncertain significance 474489 rs2229867 1:205028717-205028717 1:205059589-205059589
17 CNTN2 NM_005076.5(CNTN2):c.1115G>A (p.Arg372Gln)SNV Uncertain significance 474458 rs1223229519 1:205031572-205031572 1:205062444-205062444
18 CNTN2 NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile)SNV Uncertain significance 474464 rs116647440 1:205033819-205033819 1:205064691-205064691
19 CNTN2 NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser)SNV Uncertain significance 541411 rs191357187 1:205033770-205033770 1:205064642-205064642
20 CNTN2 NM_005076.5(CNTN2):c.820C>T (p.Arg274Cys)SNV Uncertain significance 474491 rs1473353987 1:205030395-205030395 1:205061267-205061267
21 CNTN2 NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter)SNV Uncertain significance 541408 rs537026414 1:205028310-205028310 1:205059182-205059182
22 CNTN2 NM_005076.5(CNTN2):c.2677C>T (p.Arg893Trp)SNV Uncertain significance 541412 rs149814483 1:205041207-205041207 1:205072079-205072079
23 CNTN2 NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn)SNV Uncertain significance 541409 rs201107921 1:205041138-205041138 1:205072010-205072010
24 CNTN2 NM_005076.5(CNTN2):c.215+6G>CSNV Uncertain significance 541410 rs370377460 1:205027199-205027199 1:205058071-205058071
25 CNTN2 NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys)SNV Uncertain significance 541413 rs1332074487 1:205031682-205031682 1:205062554-205062554
26 CNTN2 NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys)SNV Uncertain significance 571442 rs763492479 1:205027162-205027162 1:205058034-205058034
27 CNTN2 NM_005076.5(CNTN2):c.635A>T (p.His212Leu)SNV Uncertain significance 579679 rs1558542528 1:205028359-205028359 1:205059231-205059231
28 CNTN2 NM_005076.5(CNTN2):c.1295G>A (p.Arg432His)SNV Uncertain significance 571898 rs200098924 1:205033504-205033504 1:205064376-205064376
29 CNTN2 NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser)SNV Uncertain significance 572166 rs201649365 1:205041216-205041216 1:205072088-205072088
30 CNTN2 NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys)SNV Uncertain significance 567426 rs377098737 1:205027328-205027328 1:205058200-205058200
31 CNTN2 NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser)SNV Uncertain significance 574017 rs143259493 1:205027728-205027728 1:205058600-205058600
32 CNTN2 NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu)SNV Uncertain significance 570380 rs140570612 1:205035572-205035572 1:205066444-205066444
33 CNTN2 NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr)SNV Uncertain significance 569145 rs562711151 1:205035667-205035667 1:205066539-205066539
34 CNTN2 NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln)SNV Uncertain significance 572426 rs373583840 1:205041620-205041620 1:205072492-205072492
35 CNTN2 NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu)SNV Uncertain significance 572212 rs1262628184 1:205035715-205035715 1:205066587-205066587
36 CNTN2 NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala)SNV Uncertain significance 569022 rs1191773782 1:205028758-205028758 1:205059630-205059630
37 CNTN2 NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly)SNV Uncertain significance 573733 rs1040227835 1:205033854-205033854 1:205064726-205064726
38 CNTN2 NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=)SNV Uncertain significance 577894 rs975151766 1:205042836-205042836 1:205073708-205073708
39 CNTN2 NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met)SNV Uncertain significance 570434 rs752800918 1:205042230-205042230 1:205073102-205073102
40 CNTN2 NM_005076.5(CNTN2):c.1367C>T (p.Thr456Met)SNV Uncertain significance 578301 rs770143299 1:205033576-205033576 1:205064448-205064448
41 CNTN2 NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr)SNV Uncertain significance 565414 rs909612337 1:205042808-205042808 1:205073680-205073680
42 CNTN2 NM_005076.5(CNTN2):c.1034G>A (p.Arg345His)SNV Uncertain significance 640931 1:205031053-205031053 1:205061925-205061925
43 CNTN2 NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser)SNV Uncertain significance 662506 1:205031628-205031628 1:205062500-205062500
44 CNTN2 NM_005076.5(CNTN2):c.158C>T (p.Thr53Met)SNV Uncertain significance 646247 1:205027136-205027136 1:205058008-205058008
45 CNTN2 NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln)SNV Uncertain significance 657675 1:205030488-205030488 1:205061360-205061360
46 CNTN2 NM_005076.5(CNTN2):c.949G>A (p.Val317Met)SNV Uncertain significance 665352 1:205030524-205030524 1:205061396-205061396
47 CNTN2 NM_005076.5(CNTN2):c.1290G>A (p.Ala430=)SNV Uncertain significance 646327 1:205033499-205033499 1:205064371-205064371
48 CNTN2 NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp)SNV Uncertain significance 654139 1:205033797-205033797 1:205064669-205064669
49 CNTN2 NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln)SNV Uncertain significance 649086 1:205033798-205033798 1:205064670-205064670
50 CNTN2 NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter)SNV Uncertain significance 659979 1:205033875-205033875 1:205064747-205064747

Expression for Epilepsy, Familial Adult Myoclonic, 5

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Pathways for Epilepsy, Familial Adult Myoclonic, 5

GO Terms for Epilepsy, Familial Adult Myoclonic, 5

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