FAME4
MCID: EPL107
MIFTS: 19

Epilepsy, Familial Adult Myoclonic, 4 (FAME4)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 4

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 4:

Name: Epilepsy, Familial Adult Myoclonic, 4 58 13 74
Cortical Myoclonic Tremor with Epilepsy, Familial, 4; Fcmte4 58
Cortical Myoclonic Tremor with Epilepsy, Familial, 4 58
Epilepsy, Myoclonic, Familial Adult, Type 4 41
Epilepsy, Myoclonic, Familial Adult, 4 58
Fcmte4 58
Fame4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive course
young-adult onset
onset of tremor usually before onset of seizures
anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)


HPO:

33
epilepsy, familial adult myoclonic, 4:
Onset and clinical course nonprogressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Adult Myoclonic, 4

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 4, also known as cortical myoclonic tremor with epilepsy, familial, 4; fcmte4, is related to benign adult familial myoclonic epilepsy. An important gene associated with Epilepsy, Familial Adult Myoclonic, 4 is FAME4 (Epilepsy, Familial Adult Myoclonic, 4). Related phenotypes are seizures and tremor

Description from OMIM: 615127

Related Diseases for Epilepsy, Familial Adult Myoclonic, 4

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 4

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 4:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 tremor 33 HP:0001337
3 myoclonus 33 HP:0001336
4 generalized tonic-clonic seizures 33 HP:0002069
5 enhancement of the c-reflex 33 HP:0001340
6 jerk-locked premyoclonus spikes 33 HP:0001351

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
enhancement of the c-reflex
jerk-locked premyoclonus spikes
giant cortical somatosensory evoked potentials (seps)
involuntary rhythmic myoclonic movements ('tremor'), upper extremities
cortical origin of the tremor
more

Clinical features from OMIM:

615127

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 4

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 4

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 4

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 4

Publications for Epilepsy, Familial Adult Myoclonic, 4

Variations for Epilepsy, Familial Adult Myoclonic, 4

Expression for Epilepsy, Familial Adult Myoclonic, 4

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 4.

Pathways for Epilepsy, Familial Adult Myoclonic, 4

GO Terms for Epilepsy, Familial Adult Myoclonic, 4

Sources for Epilepsy, Familial Adult Myoclonic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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