FAME6
MCID: EPL227
MIFTS: 15

Epilepsy, Familial Adult Myoclonic, 6 (FAME6)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 6

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 6:

Name: Epilepsy, Familial Adult Myoclonic, 6 58 76 6
Cortical Myoclonic Tremor with Epilepsy, Familial, 6 58 76
Benign Adult Familial Myoclonic Epilepsy 6 58 76
Bafme6 58 76
Fcmte6 58 76
Fame6 58 76
Cortical Myoclonic Tremor with Epilepsy, Familial, 6; Fcmte6 58
Benign Adult Familial Myoclonic Epilepsy 6; Bafme6 58
Epilepsy, Myoclonic, Familial Adult, Type 6 41

Classifications:



External Ids:

OMIM 58 618074
MeSH 45 D004831
MedGen 43 CN252655

Summaries for Epilepsy, Familial Adult Myoclonic, 6

UniProtKB/Swiss-Prot : 76 Epilepsy, familial adult myoclonic, 6: 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. FAME6 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 6, is also known as cortical myoclonic tremor with epilepsy, familial, 6. An important gene associated with Epilepsy, Familial Adult Myoclonic, 6 is TNRC6A (Trinucleotide Repeat Containing Adaptor 6A).

Description from OMIM: 618074

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 6

Clinical features from OMIM:

618074

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 6

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 6

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 6

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 6

Publications for Epilepsy, Familial Adult Myoclonic, 6

Articles related to Epilepsy, Familial Adult Myoclonic, 6:

(showing 1, show less)
# 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, 6

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 6:

6 (showing 1, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNRC6A TNRC6A, 5-BP INS, TTTCA(n) insertion Pathogenic

Expression for Epilepsy, Familial Adult Myoclonic, 6

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 6.

Pathways for Epilepsy, Familial Adult Myoclonic, 6

GO Terms for Epilepsy, Familial Adult Myoclonic, 6

Sources for Epilepsy, Familial Adult Myoclonic, 6

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