FAME7
MCID: EPL228
MIFTS: 15

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 58 76 6
Cortical Myoclonic Tremor with Epilepsy, Familial, 7 58 76
Bafme7 58 76
Fcmte7 58 76
Fame7 58 76
Cortical Myoclonic Tremor with Epilepsy, Familial, 7; Fcmte7 58
Benign Adult Familial Myoclonic Epilepsy 7; Bafme7 58
Benign Adult Familial Myoclonic Epilepsy 27 76
Epilepsy, Myoclonic, Familial Adult, Type 7 41
Benign Adult Familial Myoclonic Epilepsy 7 58

Classifications:



External Ids:

OMIM 58 618075
MeSH 45 D004831
MedGen 43 CN252654

Summaries for Epilepsy, Familial Adult Myoclonic, 7

UniProtKB/Swiss-Prot : 76 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).

Description from OMIM: 618075

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

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 Year
1
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. ( 29507423 )
2018

Variations for Epilepsy, Familial Adult Myoclonic, 7

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAPGEF2 RAPGEF2, 5-BP INS, TTTCA(n) insertion Pathogenic

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

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