FAME1
MCID: EPL201
MIFTS: 26

Epilepsy, Familial Adult Myoclonic, 1 (FAME1)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 1

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 1:

Name: Epilepsy, Familial Adult Myoclonic, 1 58 76 6 74
Cortical Myoclonic Tremor with Epilepsy, Familial, 1 58 76
Benign Adult Familial Myoclonic Epilepsy 1 58 76
Bafme1 58 76
Fcmte1 58 76
Fame1 58 76
Cortical Myoclonic Tremor with Epilepsy, Familial, 1; Fcmte1 58
Benign Adult Familial Myoclonic Epilepsy 1; Bafme1 58
Epilepsy, Myoclonic, Familial Adult, Type 1 41
Epilepsy, Myoclonic, Adult Familial, 1 13

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
childhood onset has been reported
adult onset (mean age 37 years)
nonprogressive course
tremor may be elicited by movement or postural maintenance
tremor is aggravated by emotional stress
clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
some patients may have a homozygous mutation, which is associated with a more severe phenotype with earlier onset
high frequency in the chinese and japanese populations


HPO:

33
epilepsy, familial adult myoclonic, 1:
Onset and clinical course adult onset nonprogressive
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Adult Myoclonic, 1

UniProtKB/Swiss-Prot : 76 Epilepsy, familial adult myoclonic, 1: 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. FAME1 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 1, also known as cortical myoclonic tremor with epilepsy, familial, 1, is related to benign adult familial myoclonic epilepsy and epilepsy, familial adult myoclonic, 2. An important gene associated with Epilepsy, Familial Adult Myoclonic, 1 is SAMD12 (Sterile Alpha Motif Domain Containing 12). The drugs Fenofibrate and Hypolipidemic Agents have been mentioned in the context of this disorder. Related phenotypes are intellectual disability and tremor

OMIM : 58 Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by Cen et al., 2018). (601068)

Related Diseases for Epilepsy, Familial Adult Myoclonic, 1

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 1

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 1:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 tremor 33 HP:0001337
3 generalized myoclonic seizures 33 HP:0002123
4 generalized tonic-clonic seizures 33 HP:0002069
5 giant somatosensory evoked potentials 33 HP:0001312
6 eeg with irregular generalized spike and wave complexes 33 HP:0001326
7 enhancement of the c-reflex 33 HP:0001340
8 jerk-locked premyoclonus spikes 33 HP:0001351
9 eeg with photoparoxysmal response 33 HP:0010852

Symptoms via clinical synopsis from OMIM:

58
Neurologic:
mental retardation has been reported
involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers
movements ('tremors') characterized by 8 to 10-hz discharges
generalized tonic-clonic seizures (gtcs), infrequent
generalized and focal spike and wave complexes seen on eeg
more

Clinical features from OMIM:

601068

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 1

Drugs for Epilepsy, Familial Adult Myoclonic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 3 49562-28-9 3339
2 Hypolipidemic Agents Phase 3
3 Lipid Regulating Agents Phase 3
4 Antimetabolites Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial in Adults With Type 1 Diabetes Mellitus Evaluating the Effects of Fenofibrate Versus Placebo on Macular Thickness and Volume Unknown status NCT01320345 Phase 3 Fenofibrate;Inert lactose placebo

Search NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 1

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 1

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 1

Publications for Epilepsy, Familial Adult Myoclonic, 1

Articles related to Epilepsy, Familial Adult Myoclonic, 1:

# Title Authors Year
1
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. ( 29507423 )
2018
2
Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. ( 29939203 )
2018

Variations for Epilepsy, Familial Adult Myoclonic, 1

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SAMD12 SAMD12, 5-BP INS, TTTCA(n) insertion Pathogenic

Expression for Epilepsy, Familial Adult Myoclonic, 1

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 1.

Pathways for Epilepsy, Familial Adult Myoclonic, 1

GO Terms for Epilepsy, Familial Adult Myoclonic, 1

Sources for Epilepsy, Familial Adult Myoclonic, 1

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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