MCID: EPL107
MIFTS: 19

Epilepsy, Familial Adult Myoclonic, 4

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 4

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

Name: Epilepsy, Familial Adult Myoclonic, 4 57 13 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 4; Fcmte4 57
Cortical Myoclonic Tremor with Epilepsy, Familial, 4 57
Epilepsy, Myoclonic, Familial Adult, 4 57
Fcmte4 57
Fame4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, familial adult myoclonic, 4:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


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 enhancement of the c-reflex

Description from OMIM: 615127

Related Diseases for Epilepsy, Familial Adult Myoclonic, 4

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
involuntary rhythmic myoclonic movements ('tremor'), upper extremities
cortical origin of the tremor
generalized tonic-clonic seizures (gtcs) (in most patients)
eeg shows spike and wave or polyspike and wave discharges
multifocal discharges associated with contralateral jerky movements
more

Clinical features from OMIM:

615127

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 enhancement of the c-reflex 32 HP:0001340
3 jerk-locked premyoclonus spikes 32 HP:0001351
4 generalized tonic-clonic seizures 32 HP:0002069

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 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....