FAME7
MCID: EPL228
MIFTS: 14

Epilepsy, Familial Adult Myoclonic, 7 (FAME7)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 7

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 7:

Name: Epilepsy, Familial Adult Myoclonic, 7 56 73 29 6
Cortical Myoclonic Tremor with Epilepsy, Familial, 7 56 73
Bafme7 56 73
Fcmte7 56 73
Fame7 56 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 7; Fcmte7 56
Benign Adult Familial Myoclonic Epilepsy 7; Bafme7 56
Benign Adult Familial Myoclonic Epilepsy 27 73
Epilepsy, Myoclonic, Familial Adult, Type 7 39
Benign Adult Familial Myoclonic Epilepsy 7 56

Classifications:



External Ids:

OMIM 56 618075
OMIM Phenotypic Series 56 PS601068
MeSH 43 D004831
MedGen 41 CN252654

Summaries for Epilepsy, Familial Adult Myoclonic, 7

UniProtKB/Swiss-Prot : 73 Epilepsy, familial adult myoclonic, 7: 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. FAME7 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 7, is also known as cortical myoclonic tremor with epilepsy, familial, 7. An important gene associated with Epilepsy, Familial Adult Myoclonic, 7 is RAPGEF2 (Rap Guanine Nucleotide Exchange Factor 2).

More information from OMIM: 618075 PS601068

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 7

Clinical features from OMIM:

618075

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 7

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 7

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 7

Genetic tests related to Epilepsy, Familial Adult Myoclonic, 7:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Adult Myoclonic, 7 29 RAPGEF2

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 7

Publications for Epilepsy, Familial Adult Myoclonic, 7

Articles related to Epilepsy, Familial Adult Myoclonic, 7:

# Title Authors PMID Year
1
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 56 6
29507423 2018

Variations for Epilepsy, Familial Adult Myoclonic, 7

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 7:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAPGEF2 RAPGEF2, 5-BP INS, TTTCA(n)insertion Pathogenic 559389

Expression for Epilepsy, Familial Adult Myoclonic, 7

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 7.

Pathways for Epilepsy, Familial Adult Myoclonic, 7

GO Terms for Epilepsy, Familial Adult Myoclonic, 7

Sources for Epilepsy, Familial Adult Myoclonic, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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